Canonical Allele Identifier: CA2118745169

Gene: COL4A1

Linked Data

• dbSNP Id: rs1878676990

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110192449_110192453del , CM000675.2:g.110192449_110192453del	GRCh38
NC_000013.10:g.110844796_110844800del , CM000675.1:g.110844796_110844800del	GRCh37
NC_000013.9:g.109642797_109642801del	NCBI36
NG_011544.2:g.119699_119703del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.1466-167_1466-163del MANE Select	ENSP00000364979.4:n.1466-167_1466-163del
ENST00000543140.6:c.1466-167_1466-163del	ENSP00000443348.1:n.1466-167_1466-163del
ENST00000649738.1:n.1596-167_1596-163del
ENST00000375820.8:c.1466-167_1466-163del	ENSP00000364979.4:n.1466-167_1466-163del
ENST00000543140.5:c.1466-167_1466-163del	ENSP00000443348.1:n.1466-167_1466-163del
NM_001303110.1:c.1466-167_1466-163del	NP_001290039.1:n.1466-167_1466-163del
NM_001845.5:c.1466-167_1466-163del	NP_001836.3:n.1466-167_1466-163del
XM_011521048.1:c.1274-167_1274-163del	XP_011519350.1:n.1274-167_1274-163del
XM_011521048.2:c.1274-167_1274-163del	XP_011519350.1:n.1274-167_1274-163del
NM_001845.6:c.1466-167_1466-163del MANE Select	NP_001836.3:n.1466-167_1466-163del
NM_001303110.2:c.1466-167_1466-163del	NP_001290039.1:n.1466-167_1466-163del