Canonical Allele Identifier: CA2118733221

Gene: COL4A1

Linked Data

• dbSNP Id: rs1877543161

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110170050_110170060del , CM000675.2:g.110170050_110170060del	GRCh38
NC_000013.10:g.110822397_110822407del , CM000675.1:g.110822397_110822407del	GRCh37
NC_000013.9:g.109620398_109620408del	NCBI36
NG_011544.2:g.142100_142110del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-288_3743-278del MANE Select	ENSP00000364979.4:n.3743-288_3743-278del
ENST00000375820.8:c.3743-288_3743-278del	ENSP00000364979.4:n.3743-288_3743-278del
NM_001845.5:c.3743-288_3743-278del	NP_001836.3:n.3743-288_3743-278del
XM_011521048.1:c.3551-288_3551-278del	XP_011519350.1:n.3551-288_3551-278del
XM_011521048.2:c.3551-288_3551-278del	XP_011519350.1:n.3551-288_3551-278del
NM_001845.6:c.3743-288_3743-278del MANE Select	NP_001836.3:n.3743-288_3743-278del