Canonical Allele Identifier: CA611941277

Gene: GGACT PCCA

Linked Data

• dbSNP Id: rs1241099004
• gnomAD v2: 13-101182451-TTTAA-T
• gnomAD v4: 13-100530197-TTTAA-T
• MyVariant Identifiers: chr13:g.101182452_101182455del (hg19) ; chr13:g.100530198_100530201del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530201_100530204del , CM000675.2:g.100530201_100530204del	GRCh38
NC_000013.10:g.101182455_101182458del , CM000675.1:g.101182455_101182458del	GRCh37
NC_000013.9:g.99980456_99980459del	NCBI36
NG_008768.1:g.446119_446122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683975.1:c.*1929_*1932del (GGACT) MANE Select	ENSP00000508020.1:n.*1929_*1932del
ENST00000376285.6:c.*35_*38del (PCCA) MANE Select	ENSP00000365462.1:n.*35_*38del
ENST00000636366.1:c.1420_1423del (PCCA)
ENST00000636475.1:c.1737_1740del (PCCA)
ENST00000637657.1:c.1882_1885del (PCCA)
ENST00000647303.1:c.*1706_*1709del (PCCA)	ENSP00000495663.1:n.*1706_*1709del
ENST00000376250.6:c.*1929_*1932del (GGACT)	ENSP00000365426.1:n.*1929_*1932del
ENST00000376279.7:c.*35_*38del (PCCA)	ENSP00000365456.3:n.*35_*38del
ENST00000376285.5:c.*35_*38del (PCCA)	ENSP00000365462.1:n.*35_*38del
ENST00000376286.8:c.*35_*38del (PCCA)	ENSP00000365463.4:n.*35_*38del
ENST00000428969.1:c.371_374del (PCCA)	ENSP00000399413.1:n.371_374del
ENST00000455100.2:c.*1929_*1932del (GGACT)	ENSP00000410449.1:n.*1929_*1932del
ENST00000458283.5:c.438_441del (PCCA)
NM_000282.3:c.*35_*38del (PCCA)	NP_000273.2:n.*35_*38del
NM_001127692.2:c.*35_*38del (PCCA)	NP_001121164.1:n.*35_*38del
NM_001178004.1:c.*35_*38del (PCCA)	NP_001171475.1:n.*35_*38del
NM_001195087.1:c.*1929_*1932del (GGACT)	NP_001182016.1:n.*1929_*1932del
NM_033110.2:c.*1929_*1932del (GGACT)	NP_149101.1:n.*1929_*1932del
XR_931615.1:n.2079_2082del (PCCA)
NM_001352605.1:c.*35_*38del (PCCA)	NP_001339534.1:n.*35_*38del
NM_001352606.1:c.*35_*38del (PCCA)	NP_001339535.1:n.*35_*38del
NM_001352607.1:c.*35_*38del (PCCA)	NP_001339536.1:n.*35_*38del
NM_001352608.1:c.*35_*38del (PCCA)	NP_001339537.1:n.*35_*38del
NM_001352610.1:c.*35_*38del (PCCA)	NP_001339539.1:n.*35_*38del
NM_001352611.1:c.*35_*38del (PCCA)	NP_001339540.1:n.*35_*38del
NM_001352612.1:c.*35_*38del (PCCA)	NP_001339541.1:n.*35_*38del
NR_148027.1:n.2271_2274del (PCCA)
NR_148028.1:n.2309_2312del (PCCA)
NR_148029.1:n.2231_2234del (PCCA)
NR_148030.1:n.2412_2415del (PCCA)
NR_148031.1:n.2225_2228del (PCCA)
XM_005254083.2:c.*1929_*1932del (GGACT)	XP_005254140.1:n.*1929_*1932del
XM_011521129.3:c.*1929_*1932del (GGACT)	XP_011519431.1:n.*1929_*1932del
XM_017020609.1:c.*35_*38del (PCCA)	XP_016876098.1:n.*35_*38del
XM_017020613.1:c.*150_*153del (PCCA)	XP_016876102.1:n.*150_*153del
XR_001749567.1:n.2402_2405del (PCCA)
XR_001749568.1:n.2489_2492del (PCCA)
XR_001749569.1:n.2348_2351del (PCCA)
XR_001749576.1:n.1959_1962del (PCCA)
XR_001749577.1:n.1856_1859del (PCCA)
NM_000282.4:c.*35_*38del (PCCA) MANE Select	NP_000273.2:n.*35_*38del
NM_001352605.2:c.*35_*38del (PCCA)	NP_001339534.1:n.*35_*38del
NM_001352606.2:c.*35_*38del (PCCA)	NP_001339535.1:n.*35_*38del
NM_001352607.2:c.*35_*38del (PCCA)	NP_001339536.1:n.*35_*38del
NM_001352608.2:c.*35_*38del (PCCA)	NP_001339537.1:n.*35_*38del
NM_001352610.2:c.*35_*38del (PCCA)	NP_001339539.1:n.*35_*38del
NM_001352611.2:c.*35_*38del (PCCA)	NP_001339540.1:n.*35_*38del
NM_001352612.2:c.*35_*38del (PCCA)	NP_001339541.1:n.*35_*38del
NR_148027.2:n.2193_2196del (PCCA)
NR_148028.2:n.2231_2234del (PCCA)
NR_148029.2:n.2153_2156del (PCCA)
NR_148030.2:n.2334_2337del (PCCA)
NR_148031.2:n.2147_2150del (PCCA)
NM_001127692.3:c.*35_*38del (PCCA)	NP_001121164.1:n.*35_*38del
NM_001178004.2:c.*35_*38del (PCCA)	NP_001171475.1:n.*35_*38del
NM_001195087.2:c.*1929_*1932del (GGACT) MANE Select	NP_001182016.1:n.*1929_*1932del
NM_033110.3:c.*1929_*1932del (GGACT)	NP_149101.1:n.*1929_*1932del