Canonical Allele Identifier: CA2800581021

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169937del , CM000675.2:g.110169937del	GRCh38
NC_000013.10:g.110822284del , CM000675.1:g.110822284del	GRCh37
NC_000013.9:g.109620285del	NCBI36
NG_011544.2:g.142215del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-173del MANE Select	ENSP00000364979.4:n.3743-173del
ENST00000375820.8:c.3743-173del	ENSP00000364979.4:n.3743-173del
NM_001845.5:c.3743-173del	NP_001836.3:n.3743-173del
XM_011521048.1:c.3551-173del	XP_011519350.1:n.3551-173del
XM_011521048.2:c.3551-173del	XP_011519350.1:n.3551-173del
NM_001845.6:c.3743-173del MANE Select	NP_001836.3:n.3743-173del