Canonical Allele Identifier: CA2118733229

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110170043_110170047delinsAGGAG , CM000675.2:g.110170043_110170047delinsAGGAG	GRCh38
NC_000013.10:g.110822390_110822394delinsAGGAG , CM000675.1:g.110822390_110822394delinsAGGAG	GRCh37
NC_000013.9:g.109620391_109620395delinsAGGAG	NCBI36
NG_011544.2:g.142103_142107delinsCTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-285_3743-281delinsCTCCT MANE Select	ENSP00000364979.4:n.3743-285_3743-281delinsCTCCT
ENST00000375820.8:c.3743-285_3743-281delinsCTCCT	ENSP00000364979.4:n.3743-285_3743-281delinsCTCCT
NM_001845.5:c.3743-285_3743-281delinsCTCCT	NP_001836.3:n.3743-285_3743-281delinsCTCCT
XM_011521048.1:c.3551-285_3551-281delinsCTCCT	XP_011519350.1:n.3551-285_3551-281delinsCTCCT
XM_011521048.2:c.3551-285_3551-281delinsCTCCT	XP_011519350.1:n.3551-285_3551-281delinsCTCCT
NM_001845.6:c.3743-285_3743-281delinsCTCCT MANE Select	NP_001836.3:n.3743-285_3743-281delinsCTCCT