Canonical Allele Identifier: CA959512723

Gene: GGACT PCCA

Linked Data

• dbSNP Id: rs2088305116
• gnomAD v3: 13-100530223-T-TCACA
• gnomAD v4: 13-100530223-T-TCACA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530228_100530231dup , CM000675.2:g.100530228_100530231dup	GRCh38
NC_000013.10:g.101182482_101182485dup , CM000675.1:g.101182482_101182485dup	GRCh37
NC_000013.9:g.99980483_99980486dup	NCBI36
NG_008768.1:g.446146_446149dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683975.1:c.*1903_*1906dup (GGACT) MANE Select	ENSP00000508020.1:n.*1903_*1906dup
ENST00000376285.6:c.*62_*65dup (PCCA) MANE Select	ENSP00000365462.1:n.*62_*65dup
ENST00000636366.1:c.1447_1450dup (PCCA)
ENST00000636475.1:c.1764_1767dup (PCCA)
ENST00000637657.1:c.1909_1912dup (PCCA)
ENST00000647303.1:c.*1733_*1736dup (PCCA)	ENSP00000495663.1:n.*1733_*1736dup
ENST00000376250.6:c.*1903_*1906dup (GGACT)	ENSP00000365426.1:n.*1903_*1906dup
ENST00000376279.7:c.*62_*65dup (PCCA)	ENSP00000365456.3:n.*62_*65dup
ENST00000376285.5:c.*62_*65dup (PCCA)	ENSP00000365462.1:n.*62_*65dup
ENST00000376286.8:c.*62_*65dup (PCCA)	ENSP00000365463.4:n.*62_*65dup
ENST00000428969.1:c.398_401dup (PCCA)	ENSP00000399413.1:n.398_401dup
ENST00000455100.2:c.*1903_*1906dup (GGACT)	ENSP00000410449.1:n.*1903_*1906dup
ENST00000458283.5:c.465_468dup (PCCA)
NM_000282.3:c.*62_*65dup (PCCA)	NP_000273.2:n.*62_*65dup
NM_001127692.2:c.*62_*65dup (PCCA)	NP_001121164.1:n.*62_*65dup
NM_001178004.1:c.*62_*65dup (PCCA)	NP_001171475.1:n.*62_*65dup
NM_001195087.1:c.*1903_*1906dup (GGACT)	NP_001182016.1:n.*1903_*1906dup
NM_033110.2:c.*1903_*1906dup (GGACT)	NP_149101.1:n.*1903_*1906dup
XR_931615.1:n.2106_2109dup (PCCA)
NM_001352605.1:c.*62_*65dup (PCCA)	NP_001339534.1:n.*62_*65dup
NM_001352606.1:c.*62_*65dup (PCCA)	NP_001339535.1:n.*62_*65dup
NM_001352607.1:c.*62_*65dup (PCCA)	NP_001339536.1:n.*62_*65dup
NM_001352608.1:c.*62_*65dup (PCCA)	NP_001339537.1:n.*62_*65dup
NM_001352610.1:c.*62_*65dup (PCCA)	NP_001339539.1:n.*62_*65dup
NM_001352611.1:c.*62_*65dup (PCCA)	NP_001339540.1:n.*62_*65dup
NM_001352612.1:c.*62_*65dup (PCCA)	NP_001339541.1:n.*62_*65dup
NR_148027.1:n.2298_2301dup (PCCA)
NR_148028.1:n.2336_2339dup (PCCA)
NR_148029.1:n.2258_2261dup (PCCA)
NR_148030.1:n.2439_2442dup (PCCA)
NR_148031.1:n.2252_2255dup (PCCA)
XM_005254083.2:c.*1903_*1906dup (GGACT)	XP_005254140.1:n.*1903_*1906dup
XM_011521129.3:c.*1903_*1906dup (GGACT)	XP_011519431.1:n.*1903_*1906dup
XM_017020609.1:c.*62_*65dup (PCCA)	XP_016876098.1:n.*62_*65dup
XM_017020613.1:c.*177_*180dup (PCCA)	XP_016876102.1:n.*177_*180dup
XR_001749567.1:n.2429_2432dup (PCCA)
XR_001749568.1:n.2516_2519dup (PCCA)
XR_001749569.1:n.2375_2378dup (PCCA)
XR_001749576.1:n.1986_1989dup (PCCA)
XR_001749577.1:n.1883_1886dup (PCCA)
NM_000282.4:c.*62_*65dup (PCCA) MANE Select	NP_000273.2:n.*62_*65dup
NM_001352605.2:c.*62_*65dup (PCCA)	NP_001339534.1:n.*62_*65dup
NM_001352606.2:c.*62_*65dup (PCCA)	NP_001339535.1:n.*62_*65dup
NM_001352607.2:c.*62_*65dup (PCCA)	NP_001339536.1:n.*62_*65dup
NM_001352608.2:c.*62_*65dup (PCCA)	NP_001339537.1:n.*62_*65dup
NM_001352610.2:c.*62_*65dup (PCCA)	NP_001339539.1:n.*62_*65dup
NM_001352611.2:c.*62_*65dup (PCCA)	NP_001339540.1:n.*62_*65dup
NM_001352612.2:c.*62_*65dup (PCCA)	NP_001339541.1:n.*62_*65dup
NR_148027.2:n.2220_2223dup (PCCA)
NR_148028.2:n.2258_2261dup (PCCA)
NR_148029.2:n.2180_2183dup (PCCA)
NR_148030.2:n.2361_2364dup (PCCA)
NR_148031.2:n.2174_2177dup (PCCA)
NM_001127692.3:c.*62_*65dup (PCCA)	NP_001121164.1:n.*62_*65dup
NM_001178004.2:c.*62_*65dup (PCCA)	NP_001171475.1:n.*62_*65dup
NM_001195087.2:c.*1903_*1906dup (GGACT) MANE Select	NP_001182016.1:n.*1903_*1906dup
NM_033110.3:c.*1903_*1906dup (GGACT)	NP_149101.1:n.*1903_*1906dup