Canonical Allele Identifier: CA2729123653

Gene: COL4A1

Linked Data

• dbSNP Id: rs2139154235

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169523_110169524insGCAC , CM000675.2:g.110169523_110169524insGCAC	GRCh38
NC_000013.10:g.110821870_110821871insGCAC , CM000675.1:g.110821870_110821871insGCAC	GRCh37
NC_000013.9:g.109619871_109619872insGCAC	NCBI36
NG_011544.2:g.142629_142630insCGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+108_3876+109insCGTG MANE Select	ENSP00000364979.4:n.3876+108_3876+109insCGTG
ENST00000650424.1:c.32+108_32+109insCGTG
ENST00000375820.8:c.3876+108_3876+109insCGTG	ENSP00000364979.4:n.3876+108_3876+109insCGTG
NM_001845.5:c.3876+108_3876+109insCGTG	NP_001836.3:n.3876+108_3876+109insCGTG
XM_011521048.1:c.3684+108_3684+109insCGTG	XP_011519350.1:n.3684+108_3684+109insCGTG
XM_011521048.2:c.3684+108_3684+109insCGTG	XP_011519350.1:n.3684+108_3684+109insCGTG
NM_001845.6:c.3876+108_3876+109insCGTG MANE Select	NP_001836.3:n.3876+108_3876+109insCGTG