Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530292_100530294delinsCCA , CM000675.2:g.100530292_100530294delinsCCA	GRCh38
NC_000013.10:g.101182546_101182548delinsCCA , CM000675.1:g.101182546_101182548delinsCCA	GRCh37
NC_000013.9:g.99980547_99980549delinsCCA	NCBI36
NG_008768.1:g.446210_446212delinsCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683975.1:c.1836_1838delinsTGG (GGACT) MANE Select	ENSP00000508020.1:n.1836_1838delinsTGG
ENST00000376285.6:c.126_128delinsCCA (PCCA) MANE Select	ENSP00000365462.1:n.126_128delinsCCA
ENST00000636366.1:c.1511_1513delinsCCA (PCCA)
ENST00000636475.1:c.1828_1830delinsCCA (PCCA)
ENST00000637657.1:c.1973_1975delinsCCA (PCCA)
ENST00000647303.1:c.1797_1799delinsCCA (PCCA)	ENSP00000495663.1:n.1797_1799delinsCCA
ENST00000376250.6:c.1836_1838delinsTGG (GGACT)	ENSP00000365426.1:n.1836_1838delinsTGG
ENST00000376279.7:c.126_128delinsCCA (PCCA)	ENSP00000365456.3:n.126_128delinsCCA
ENST00000376285.5:c.126_128delinsCCA (PCCA)	ENSP00000365462.1:n.126_128delinsCCA
ENST00000376286.8:c.126_128delinsCCA (PCCA)	ENSP00000365463.4:n.126_128delinsCCA
ENST00000428969.1:c.462_464delinsCCA (PCCA)	ENSP00000399413.1:n.462_464delinsCCA
ENST00000455100.2:c.1836_1838delinsTGG (GGACT)	ENSP00000410449.1:n.1836_1838delinsTGG
ENST00000458283.5:c.529_531delinsCCA (PCCA)
NM_000282.3:c.126_128delinsCCA (PCCA)	NP_000273.2:n.126_128delinsCCA
NM_001127692.2:c.126_128delinsCCA (PCCA)	NP_001121164.1:n.126_128delinsCCA
NM_001178004.1:c.126_128delinsCCA (PCCA)	NP_001171475.1:n.126_128delinsCCA
NM_001195087.1:c.1836_1838delinsTGG (GGACT)	NP_001182016.1:n.1836_1838delinsTGG
NM_033110.2:c.1836_1838delinsTGG (GGACT)	NP_149101.1:n.1836_1838delinsTGG
XR_931615.1:n.2170_2172delinsCCA (PCCA)
NM_001352605.1:c.126_128delinsCCA (PCCA)	NP_001339534.1:n.126_128delinsCCA
NM_001352606.1:c.126_128delinsCCA (PCCA)	NP_001339535.1:n.126_128delinsCCA
NM_001352607.1:c.126_128delinsCCA (PCCA)	NP_001339536.1:n.126_128delinsCCA
NM_001352608.1:c.126_128delinsCCA (PCCA)	NP_001339537.1:n.126_128delinsCCA
NM_001352610.1:c.126_128delinsCCA (PCCA)	NP_001339539.1:n.126_128delinsCCA
NM_001352611.1:c.126_128delinsCCA (PCCA)	NP_001339540.1:n.126_128delinsCCA
NM_001352612.1:c.126_128delinsCCA (PCCA)	NP_001339541.1:n.126_128delinsCCA
NR_148027.1:n.2362_2364delinsCCA (PCCA)
NR_148028.1:n.2400_2402delinsCCA (PCCA)
NR_148029.1:n.2322_2324delinsCCA (PCCA)
NR_148030.1:n.2503_2505delinsCCA (PCCA)
NR_148031.1:n.2316_2318delinsCCA (PCCA)
XM_005254083.2:c.1836_1838delinsTGG (GGACT)	XP_005254140.1:n.1836_1838delinsTGG
XM_011521129.3:c.1836_1838delinsTGG (GGACT)	XP_011519431.1:n.1836_1838delinsTGG
XM_017020609.1:c.126_128delinsCCA (PCCA)	XP_016876098.1:n.126_128delinsCCA
XM_017020613.1:c.241_243delinsCCA (PCCA)	XP_016876102.1:n.241_243delinsCCA
XR_001749567.1:n.2493_2495delinsCCA (PCCA)
XR_001749568.1:n.2580_2582delinsCCA (PCCA)
XR_001749569.1:n.2439_2441delinsCCA (PCCA)
XR_001749576.1:n.2050_2052delinsCCA (PCCA)
XR_001749577.1:n.1947_1949delinsCCA (PCCA)
NM_000282.4:c.126_128delinsCCA (PCCA) MANE Select	NP_000273.2:n.126_128delinsCCA
NM_001352605.2:c.126_128delinsCCA (PCCA)	NP_001339534.1:n.126_128delinsCCA
NM_001352606.2:c.126_128delinsCCA (PCCA)	NP_001339535.1:n.126_128delinsCCA
NM_001352607.2:c.126_128delinsCCA (PCCA)	NP_001339536.1:n.126_128delinsCCA
NM_001352608.2:c.126_128delinsCCA (PCCA)	NP_001339537.1:n.126_128delinsCCA
NM_001352610.2:c.126_128delinsCCA (PCCA)	NP_001339539.1:n.126_128delinsCCA
NM_001352611.2:c.126_128delinsCCA (PCCA)	NP_001339540.1:n.126_128delinsCCA
NM_001352612.2:c.126_128delinsCCA (PCCA)	NP_001339541.1:n.126_128delinsCCA
NR_148027.2:n.2284_2286delinsCCA (PCCA)
NR_148028.2:n.2322_2324delinsCCA (PCCA)
NR_148029.2:n.2244_2246delinsCCA (PCCA)
NR_148030.2:n.2425_2427delinsCCA (PCCA)
NR_148031.2:n.2238_2240delinsCCA (PCCA)
NM_001127692.3:c.126_128delinsCCA (PCCA)	NP_001121164.1:n.126_128delinsCCA
NM_001178004.2:c.126_128delinsCCA (PCCA)	NP_001171475.1:n.126_128delinsCCA
NM_001195087.2:c.1836_1838delinsTGG (GGACT) MANE Select	NP_001182016.1:n.1836_1838delinsTGG
NM_033110.3:c.1836_1838delinsTGG (GGACT)	NP_149101.1:n.1836_1838delinsTGG

HGVS	Amino-acid Change
ENST00000683975.1:c.1836_1838delinsTGG (GGACT) MANE Select	ENSP00000508020.1:n.1836_1838delinsTGG
ENST00000376285.6:c.126_128delinsCCA (PCCA) MANE Select	ENSP00000365462.1:n.126_128delinsCCA
ENST00000636366.1:c.1511_1513delinsCCA (PCCA)
ENST00000636475.1:c.1828_1830delinsCCA (PCCA)
ENST00000637657.1:c.1973_1975delinsCCA (PCCA)
ENST00000647303.1:c.1797_1799delinsCCA (PCCA)	ENSP00000495663.1:n.1797_1799delinsCCA
ENST00000376250.6:c.1836_1838delinsTGG (GGACT)	ENSP00000365426.1:n.1836_1838delinsTGG
ENST00000376279.7:c.126_128delinsCCA (PCCA)	ENSP00000365456.3:n.126_128delinsCCA
ENST00000376285.5:c.126_128delinsCCA (PCCA)	ENSP00000365462.1:n.126_128delinsCCA
ENST00000376286.8:c.126_128delinsCCA (PCCA)	ENSP00000365463.4:n.126_128delinsCCA
ENST00000428969.1:c.462_464delinsCCA (PCCA)	ENSP00000399413.1:n.462_464delinsCCA
ENST00000455100.2:c.1836_1838delinsTGG (GGACT)	ENSP00000410449.1:n.1836_1838delinsTGG
ENST00000458283.5:c.529_531delinsCCA (PCCA)
NM_000282.3:c.126_128delinsCCA (PCCA)	NP_000273.2:n.126_128delinsCCA
NM_001127692.2:c.126_128delinsCCA (PCCA)	NP_001121164.1:n.126_128delinsCCA
NM_001178004.1:c.126_128delinsCCA (PCCA)	NP_001171475.1:n.126_128delinsCCA
NM_001195087.1:c.1836_1838delinsTGG (GGACT)	NP_001182016.1:n.1836_1838delinsTGG
NM_033110.2:c.1836_1838delinsTGG (GGACT)	NP_149101.1:n.1836_1838delinsTGG
XR_931615.1:n.2170_2172delinsCCA (PCCA)
NM_001352605.1:c.126_128delinsCCA (PCCA)	NP_001339534.1:n.126_128delinsCCA
NM_001352606.1:c.126_128delinsCCA (PCCA)	NP_001339535.1:n.126_128delinsCCA
NM_001352607.1:c.126_128delinsCCA (PCCA)	NP_001339536.1:n.126_128delinsCCA
NM_001352608.1:c.126_128delinsCCA (PCCA)	NP_001339537.1:n.126_128delinsCCA
NM_001352610.1:c.126_128delinsCCA (PCCA)	NP_001339539.1:n.126_128delinsCCA
NM_001352611.1:c.126_128delinsCCA (PCCA)	NP_001339540.1:n.126_128delinsCCA
NM_001352612.1:c.126_128delinsCCA (PCCA)	NP_001339541.1:n.126_128delinsCCA
NR_148027.1:n.2362_2364delinsCCA (PCCA)
NR_148028.1:n.2400_2402delinsCCA (PCCA)
NR_148029.1:n.2322_2324delinsCCA (PCCA)
NR_148030.1:n.2503_2505delinsCCA (PCCA)
NR_148031.1:n.2316_2318delinsCCA (PCCA)
XM_005254083.2:c.1836_1838delinsTGG (GGACT)	XP_005254140.1:n.1836_1838delinsTGG
XM_011521129.3:c.1836_1838delinsTGG (GGACT)	XP_011519431.1:n.1836_1838delinsTGG
XM_017020609.1:c.126_128delinsCCA (PCCA)	XP_016876098.1:n.126_128delinsCCA
XM_017020613.1:c.241_243delinsCCA (PCCA)	XP_016876102.1:n.241_243delinsCCA
XR_001749567.1:n.2493_2495delinsCCA (PCCA)
XR_001749568.1:n.2580_2582delinsCCA (PCCA)
XR_001749569.1:n.2439_2441delinsCCA (PCCA)
XR_001749576.1:n.2050_2052delinsCCA (PCCA)
XR_001749577.1:n.1947_1949delinsCCA (PCCA)
NM_000282.4:c.126_128delinsCCA (PCCA) MANE Select	NP_000273.2:n.126_128delinsCCA
NM_001352605.2:c.126_128delinsCCA (PCCA)	NP_001339534.1:n.126_128delinsCCA
NM_001352606.2:c.126_128delinsCCA (PCCA)	NP_001339535.1:n.126_128delinsCCA
NM_001352607.2:c.126_128delinsCCA (PCCA)	NP_001339536.1:n.126_128delinsCCA
NM_001352608.2:c.126_128delinsCCA (PCCA)	NP_001339537.1:n.126_128delinsCCA
NM_001352610.2:c.126_128delinsCCA (PCCA)	NP_001339539.1:n.126_128delinsCCA
NM_001352611.2:c.126_128delinsCCA (PCCA)	NP_001339540.1:n.126_128delinsCCA
NM_001352612.2:c.126_128delinsCCA (PCCA)	NP_001339541.1:n.126_128delinsCCA
NR_148027.2:n.2284_2286delinsCCA (PCCA)
NR_148028.2:n.2322_2324delinsCCA (PCCA)
NR_148029.2:n.2244_2246delinsCCA (PCCA)
NR_148030.2:n.2425_2427delinsCCA (PCCA)
NR_148031.2:n.2238_2240delinsCCA (PCCA)
NM_001127692.3:c.126_128delinsCCA (PCCA)	NP_001121164.1:n.126_128delinsCCA
NM_001178004.2:c.126_128delinsCCA (PCCA)	NP_001171475.1:n.126_128delinsCCA
NM_001195087.2:c.1836_1838delinsTGG (GGACT) MANE Select	NP_001182016.1:n.1836_1838delinsTGG
NM_033110.3:c.1836_1838delinsTGG (GGACT)	NP_149101.1:n.1836_1838delinsTGG