Canonical Allele Identifier: CA2118751225

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110205289_110205290delinsTA , CM000675.2:g.110205289_110205290delinsTA	GRCh38
NC_000013.10:g.110857636_110857637delinsTA , CM000675.1:g.110857636_110857637delinsTA	GRCh37
NC_000013.9:g.109655637_109655638delinsTA	NCBI36
NG_011544.2:g.106860_106861delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000375820.10:c.957+63_957+64delinsTA MANE Select	ENSP00000364979.4:n.957+63_957+64delinsTA...
ENST00000543140.6:c.957+63_957+64delinsTA	ENSP00000443348.1:n.957+63_957+64delinsTA...
ENST00000647632.1:n.653_654delinsTA
ENST00000647797.1:c.836+63_836+64delinsTA
ENST00000649738.1:n.1087+63_1087+64delinsTA
ENST00000375820.8:c.957+63_957+64delinsTA	ENSP00000364979.4:n.957+63_957+64delinsTA...
ENST00000543140.5:c.957+63_957+64delinsTA	ENSP00000443348.1:n.957+63_957+64delinsTA...
NM_001303110.1:c.957+63_957+64delinsTA	NP_001290039.1:n.957+63_957+64delinsTA
NM_001845.5:c.957+63_957+64delinsTA	NP_001836.3:n.957+63_957+64delinsTA
XM_011521048.1:c.765+63_765+64delinsTA	XP_011519350.1:n.765+63_765+64delinsTA
XM_011521048.2:c.765+63_765+64delinsTA	XP_011519350.1:n.765+63_765+64delinsTA
NM_001845.6:c.957+63_957+64delinsTA MANE Select	NP_001836.3:n.957+63_957+64delinsTA
NM_001303110.2:c.957+63_957+64delinsTA	NP_001290039.1:n.957+63_957+64delinsTA