Canonical Allele Identifier: CA919358426

Gene: COL4A1

Linked Data

• dbSNP Id: rs1594543863

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110170042_110170082del , CM000675.2:g.110170042_110170082del	GRCh38
NC_000013.10:g.110822389_110822429del , CM000675.1:g.110822389_110822429del	GRCh37
NC_000013.9:g.109620390_109620430del	NCBI36
NG_011544.2:g.142075_142115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-313_3743-273del MANE Select	ENSP00000364979.4:n.3743-313_3743-273del
ENST00000375820.8:c.3743-313_3743-273del	ENSP00000364979.4:n.3743-313_3743-273del
NM_001845.5:c.3743-313_3743-273del	NP_001836.3:n.3743-313_3743-273del
XM_011521048.1:c.3551-313_3551-273del	XP_011519350.1:n.3551-313_3551-273del
XM_011521048.2:c.3551-313_3551-273del	XP_011519350.1:n.3551-313_3551-273del
NM_001845.6:c.3743-313_3743-273del MANE Select	NP_001836.3:n.3743-313_3743-273del