Canonical Allele Identifier: CA2118733108

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169980_110169981delinsAC , CM000675.2:g.110169980_110169981delinsAC	GRCh38
NC_000013.10:g.110822327_110822328delinsAC , CM000675.1:g.110822327_110822328delinsAC	GRCh37
NC_000013.9:g.109620328_109620329delinsAC	NCBI36
NG_011544.2:g.142169_142170delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-219_3743-218delinsGT MANE Select	ENSP00000364979.4:n.3743-219_3743-218delinsGT
ENST00000375820.8:c.3743-219_3743-218delinsGT	ENSP00000364979.4:n.3743-219_3743-218delinsGT
NM_001845.5:c.3743-219_3743-218delinsGT	NP_001836.3:n.3743-219_3743-218delinsGT
XM_011521048.1:c.3551-219_3551-218delinsGT	XP_011519350.1:n.3551-219_3551-218delinsGT
XM_011521048.2:c.3551-219_3551-218delinsGT	XP_011519350.1:n.3551-219_3551-218delinsGT
NM_001845.6:c.3743-219_3743-218delinsGT MANE Select	NP_001836.3:n.3743-219_3743-218delinsGT