Canonical Allele Identifier: CA959512779

Gene: GGACT PCCA

Linked Data

• dbSNP Id: rs2088310964
• gnomAD v3: 13-100530292-CCA-C
• gnomAD v4: 13-100530292-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530295_100530296del , CM000675.2:g.100530295_100530296del	GRCh38
NC_000013.10:g.101182549_101182550del , CM000675.1:g.101182549_101182550del	GRCh37
NC_000013.9:g.99980550_99980551del	NCBI36
NG_008768.1:g.446213_446214del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683975.1:c.*1836_*1837del (GGACT) MANE Select	ENSP00000508020.1:n.*1836_*1837del
ENST00000376285.6:c.*129_*130del (PCCA) MANE Select	ENSP00000365462.1:n.*129_*130del
ENST00000636366.1:c.1514_1515del (PCCA)
ENST00000636475.1:c.1831_1832del (PCCA)
ENST00000637657.1:c.1976_1977del (PCCA)
ENST00000647303.1:c.*1800_*1801del (PCCA)	ENSP00000495663.1:n.*1800_*1801del
ENST00000376250.6:c.*1836_*1837del (GGACT)	ENSP00000365426.1:n.*1836_*1837del
ENST00000376279.7:c.*129_*130del (PCCA)	ENSP00000365456.3:n.*129_*130del
ENST00000376285.5:c.*129_*130del (PCCA)	ENSP00000365462.1:n.*129_*130del
ENST00000376286.8:c.*129_*130del (PCCA)	ENSP00000365463.4:n.*129_*130del
ENST00000428969.1:c.465_466del (PCCA)	ENSP00000399413.1:n.465_466del
ENST00000455100.2:c.*1836_*1837del (GGACT)	ENSP00000410449.1:n.*1836_*1837del
ENST00000458283.5:c.532_533del (PCCA)
NM_000282.3:c.*129_*130del (PCCA)	NP_000273.2:n.*129_*130del
NM_001127692.2:c.*129_*130del (PCCA)	NP_001121164.1:n.*129_*130del
NM_001178004.1:c.*129_*130del (PCCA)	NP_001171475.1:n.*129_*130del
NM_001195087.1:c.*1836_*1837del (GGACT)	NP_001182016.1:n.*1836_*1837del
NM_033110.2:c.*1836_*1837del (GGACT)	NP_149101.1:n.*1836_*1837del
XR_931615.1:n.2173_2174del (PCCA)
NM_001352605.1:c.*129_*130del (PCCA)	NP_001339534.1:n.*129_*130del
NM_001352606.1:c.*129_*130del (PCCA)	NP_001339535.1:n.*129_*130del
NM_001352607.1:c.*129_*130del (PCCA)	NP_001339536.1:n.*129_*130del
NM_001352608.1:c.*129_*130del (PCCA)	NP_001339537.1:n.*129_*130del
NM_001352610.1:c.*129_*130del (PCCA)	NP_001339539.1:n.*129_*130del
NM_001352611.1:c.*129_*130del (PCCA)	NP_001339540.1:n.*129_*130del
NM_001352612.1:c.*129_*130del (PCCA)	NP_001339541.1:n.*129_*130del
NR_148027.1:n.2365_2366del (PCCA)
NR_148028.1:n.2403_2404del (PCCA)
NR_148029.1:n.2325_2326del (PCCA)
NR_148030.1:n.2506_2507del (PCCA)
NR_148031.1:n.2319_2320del (PCCA)
XM_005254083.2:c.*1836_*1837del (GGACT)	XP_005254140.1:n.*1836_*1837del
XM_011521129.3:c.*1836_*1837del (GGACT)	XP_011519431.1:n.*1836_*1837del
XM_017020609.1:c.*129_*130del (PCCA)	XP_016876098.1:n.*129_*130del
XM_017020613.1:c.*244_*245del (PCCA)	XP_016876102.1:n.*244_*245del
XR_001749567.1:n.2496_2497del (PCCA)
XR_001749568.1:n.2583_2584del (PCCA)
XR_001749569.1:n.2442_2443del (PCCA)
XR_001749576.1:n.2053_2054del (PCCA)
XR_001749577.1:n.1950_1951del (PCCA)
NM_000282.4:c.*129_*130del (PCCA) MANE Select	NP_000273.2:n.*129_*130del
NM_001352605.2:c.*129_*130del (PCCA)	NP_001339534.1:n.*129_*130del
NM_001352606.2:c.*129_*130del (PCCA)	NP_001339535.1:n.*129_*130del
NM_001352607.2:c.*129_*130del (PCCA)	NP_001339536.1:n.*129_*130del
NM_001352608.2:c.*129_*130del (PCCA)	NP_001339537.1:n.*129_*130del
NM_001352610.2:c.*129_*130del (PCCA)	NP_001339539.1:n.*129_*130del
NM_001352611.2:c.*129_*130del (PCCA)	NP_001339540.1:n.*129_*130del
NM_001352612.2:c.*129_*130del (PCCA)	NP_001339541.1:n.*129_*130del
NR_148027.2:n.2287_2288del (PCCA)
NR_148028.2:n.2325_2326del (PCCA)
NR_148029.2:n.2247_2248del (PCCA)
NR_148030.2:n.2428_2429del (PCCA)
NR_148031.2:n.2241_2242del (PCCA)
NM_001127692.3:c.*129_*130del (PCCA)	NP_001121164.1:n.*129_*130del
NM_001178004.2:c.*129_*130del (PCCA)	NP_001171475.1:n.*129_*130del
NM_001195087.2:c.*1836_*1837del (GGACT) MANE Select	NP_001182016.1:n.*1836_*1837del
NM_033110.3:c.*1836_*1837del (GGACT)	NP_149101.1:n.*1836_*1837del