Canonical Allele Identifier: CA2118733070

Gene: COL4A1

Linked Data

• dbSNP Id: rs1450492741

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169940_110169941insAAGGGAGGAAGGGAGGGAGA , CM000675.2:g.110169940_110169941insAAGGGAGGAAGGGAGGGAGA	GRCh38
NC_000013.10:g.110822287_110822288insAAGGGAGGAAGGGAGGGAGA , CM000675.1:g.110822287_110822288insAAGGGAGGAAGGGAGGGAGA	GRCh37
NC_000013.9:g.109620288_109620289insAAGGGAGGAAGGGAGGGAGA	NCBI36
NG_011544.2:g.142209_142210insTCTCCCTCCCTTCCTCCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-179_3743-178insTCTCCCTCCCTTCCTCCCTT MANE Select	ENSP00000364979.4:n.3743-179_3743-178insTCTCCCTCCCTTCCTCCCTT
ENST00000375820.8:c.3743-179_3743-178insTCTCCCTCCCTTCCTCCCTT	ENSP00000364979.4:n.3743-179_3743-178insTCTCCCTCCCTTCCTCCCTT
NM_001845.5:c.3743-179_3743-178insTCTCCCTCCCTTCCTCCCTT	NP_001836.3:n.3743-179_3743-178insTCTCCCTCCCTTCCTCCCTT
XM_011521048.1:c.3551-179_3551-178insTCTCCCTCCCTTCCTCCCTT	XP_011519350.1:n.3551-179_3551-178insTCTCCCTCCCTTCCTCCCTT
XM_011521048.2:c.3551-179_3551-178insTCTCCCTCCCTTCCTCCCTT	XP_011519350.1:n.3551-179_3551-178insTCTCCCTCCCTTCCTCCCTT
NM_001845.6:c.3743-179_3743-178insTCTCCCTCCCTTCCTCCCTT MANE Select	NP_001836.3:n.3743-179_3743-178insTCTCCCTCCCTTCCTCCCTT