Canonical Allele Identifier: CA2623672667

Gene: COL4A1

Linked Data

• dbSNP Id: rs2139154177
• gnomAD v4: 13-110169510-A-ACACT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169513_110169514insTCAC , CM000675.2:g.110169513_110169514insTCAC	GRCh38
NC_000013.10:g.110821860_110821861insTCAC , CM000675.1:g.110821860_110821861insTCAC	GRCh37
NC_000013.9:g.109619861_109619862insTCAC	NCBI36
NG_011544.2:g.142639_142640insAGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+118_3876+119insAGTG MANE Select	ENSP00000364979.4:n.3876+118_3876+119insAGTG
ENST00000650424.1:c.32+118_32+119insAGTG
ENST00000375820.8:c.3876+118_3876+119insAGTG	ENSP00000364979.4:n.3876+118_3876+119insAGTG
NM_001845.5:c.3876+118_3876+119insAGTG	NP_001836.3:n.3876+118_3876+119insAGTG
XM_011521048.1:c.3684+118_3684+119insAGTG	XP_011519350.1:n.3684+118_3684+119insAGTG
XM_011521048.2:c.3684+118_3684+119insAGTG	XP_011519350.1:n.3684+118_3684+119insAGTG
NM_001845.6:c.3876+118_3876+119insAGTG MANE Select	NP_001836.3:n.3876+118_3876+119insAGTG