Canonical Allele Identifier: CA2118733158

Gene: COL4A1

Linked Data

• dbSNP Id: rs1877540568

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110170020_110170021insCAGG , CM000675.2:g.110170020_110170021insCAGG	GRCh38
NC_000013.10:g.110822367_110822368insCAGG , CM000675.1:g.110822367_110822368insCAGG	GRCh37
NC_000013.9:g.109620368_109620369insCAGG	NCBI36
NG_011544.2:g.142129_142130insCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-259_3743-258insCCTG MANE Select	ENSP00000364979.4:n.3743-259_3743-258insCCTG
ENST00000375820.8:c.3743-259_3743-258insCCTG	ENSP00000364979.4:n.3743-259_3743-258insCCTG
NM_001845.5:c.3743-259_3743-258insCCTG	NP_001836.3:n.3743-259_3743-258insCCTG
XM_011521048.1:c.3551-259_3551-258insCCTG	XP_011519350.1:n.3551-259_3551-258insCCTG
XM_011521048.2:c.3551-259_3551-258insCCTG	XP_011519350.1:n.3551-259_3551-258insCCTG
NM_001845.6:c.3743-259_3743-258insCCTG MANE Select	NP_001836.3:n.3743-259_3743-258insCCTG