Canonical Allele Identifier: CA2518318271

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169851_110169856del , CM000675.2:g.110169851_110169856del	GRCh38
NC_000013.10:g.110822198_110822203del , CM000675.1:g.110822198_110822203del	GRCh37
NC_000013.9:g.109620199_109620204del	NCBI36
NG_011544.2:g.142294_142299del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-94_3743-89del MANE Select	ENSP00000364979.4:n.3743-94_3743-89del
ENST00000375820.8:c.3743-94_3743-89del	ENSP00000364979.4:n.3743-94_3743-89del
NM_001845.5:c.3743-94_3743-89del	NP_001836.3:n.3743-94_3743-89del
XM_011521048.1:c.3551-94_3551-89del	XP_011519350.1:n.3551-94_3551-89del
XM_011521048.2:c.3551-94_3551-89del	XP_011519350.1:n.3551-94_3551-89del
NM_001845.6:c.3743-94_3743-89del MANE Select	NP_001836.3:n.3743-94_3743-89del