Canonical Allele Identifier: CA2729123646

Gene: COL4A1

Linked Data

• dbSNP Id: rs2139154224

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169521_110169522insCCAC , CM000675.2:g.110169521_110169522insCCAC	GRCh38
NC_000013.10:g.110821868_110821869insCCAC , CM000675.1:g.110821868_110821869insCCAC	GRCh37
NC_000013.9:g.109619869_109619870insCCAC	NCBI36
NG_011544.2:g.142631_142632insGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+110_3876+111insGGTG MANE Select	ENSP00000364979.4:n.3876+110_3876+111insGGTG
ENST00000650424.1:c.32+110_32+111insGGTG
ENST00000375820.8:c.3876+110_3876+111insGGTG	ENSP00000364979.4:n.3876+110_3876+111insGGTG
NM_001845.5:c.3876+110_3876+111insGGTG	NP_001836.3:n.3876+110_3876+111insGGTG
XM_011521048.1:c.3684+110_3684+111insGGTG	XP_011519350.1:n.3684+110_3684+111insGGTG
XM_011521048.2:c.3684+110_3684+111insGGTG	XP_011519350.1:n.3684+110_3684+111insGGTG
NM_001845.6:c.3876+110_3876+111insGGTG MANE Select	NP_001836.3:n.3876+110_3876+111insGGTG