Canonical Allele Identifier: CA2838979207

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110170519dup , CM000675.2:g.110170519dup	GRCh38
NC_000013.10:g.110822866dup , CM000675.1:g.110822866dup	GRCh37
NC_000013.9:g.109620867dup	NCBI36
NG_011544.2:g.141631dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3742+28dup MANE Select	ENSP00000364979.4:n.3742+28dup
ENST00000375820.8:c.3742+28dup	ENSP00000364979.4:n.3742+28dup
NM_001845.5:c.3742+28dup	NP_001836.3:n.3742+28dup
XM_011521048.1:c.3550+28dup	XP_011519350.1:n.3550+28dup
XM_011521048.2:c.3550+28dup	XP_011519350.1:n.3550+28dup
NM_001845.6:c.3742+28dup MANE Select	NP_001836.3:n.3742+28dup