Canonical Allele Identifier: CA2118732617

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169537_110169544delinsTACACAAA , CM000675.2:g.110169537_110169544delinsTACACAAA	GRCh38
NC_000013.10:g.110821884_110821891delinsTACACAAA , CM000675.1:g.110821884_110821891delinsTACACAAA	GRCh37
NC_000013.9:g.109619885_109619892delinsTACACAAA	NCBI36
NG_011544.2:g.142606_142613delinsTTTGTGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+85_3876+92delinsTTTGTGTA MANE Select	ENSP00000364979.4:n.3876+85_3876+92delinsTTTGTGTA
ENST00000650424.1:c.32+85_32+92delinsTTTGTGTA
ENST00000375820.8:c.3876+85_3876+92delinsTTTGTGTA	ENSP00000364979.4:n.3876+85_3876+92delinsTTTGTGTA
NM_001845.5:c.3876+85_3876+92delinsTTTGTGTA	NP_001836.3:n.3876+85_3876+92delinsTTTGTGTA
XM_011521048.1:c.3684+85_3684+92delinsTTTGTGTA	XP_011519350.1:n.3684+85_3684+92delinsTTTGTGTA
XM_011521048.2:c.3684+85_3684+92delinsTTTGTGTA	XP_011519350.1:n.3684+85_3684+92delinsTTTGTGTA
NM_001845.6:c.3876+85_3876+92delinsTTTGTGTA MANE Select	NP_001836.3:n.3876+85_3876+92delinsTTTGTGTA