Canonical Allele Identifier: CA2729123603

Gene: COL4A1

Linked Data

• dbSNP Id: rs2139154177

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169513_110169514insCCAC , CM000675.2:g.110169513_110169514insCCAC	GRCh38
NC_000013.10:g.110821860_110821861insCCAC , CM000675.1:g.110821860_110821861insCCAC	GRCh37
NC_000013.9:g.109619861_109619862insCCAC	NCBI36
NG_011544.2:g.142639_142640insGGTG

Transcript Alleles

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