Canonical Allele Identifier: CA2118733214

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110170038_110170080delinsAGGGAAGGAGGGAGGAAGGAGGGGAGGGAGGAGGGGAGGGGAG , CM000675.2:g.110170038_110170080delinsAGGGAAGGAGGGAGGAAGGAGGGGAGGGAGGAGGGGAGGGGAG	GRCh38
NC_000013.10:g.110822385_110822427delinsAGGGAAGGAGGGAGGAAGGAGGGGAGGGAGGAGGGGAGGGGAG , CM000675.1:g.110822385_110822427delinsAGGGAAGGAGGGAGGAAGGAGGGGAGGGAGGAGGGGAGGGGAG	GRCh37
NC_000013.9:g.109620386_109620428delinsAGGGAAGGAGGGAGGAAGGAGGGGAGGGAGGAGGGGAGGGGAG	NCBI36
NG_011544.2:g.142070_142112delinsCTCCCCTCCCCTCCTCCCTCCCCTCCTTCCTCCCTCCTTCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-318_3743-276delinsCTCCCCTCCCCTCCTCCCTCCCCTCCTTCCTCCCTCCTTCCCT MANE Select	ENSP00000364979.4:n.3743-318_3743-276delinsCTCCCCTCCCCTCCTCCC...
ENST00000375820.8:c.3743-318_3743-276delinsCTCCCCTCCCCTCCTCCCTCCCCTCCTTCCTCCCTCCTTCCCT	ENSP00000364979.4:n.3743-318_3743-276delinsCTCCCCTCCCCTCCTCCC...
NM_001845.5:c.3743-318_3743-276delinsCTCCCCTCCCCTCCTCCCTCCCCTCCTTCCTCCCTCCTTCCCT	NP_001836.3:n.3743-318_3743-276delinsCTCCCCTCCCCTCCTCCCTCCCCT...
XM_011521048.1:c.3551-318_3551-276delinsCTCCCCTCCCCTCCTCCCTCCCCTCCTTCCTCCCTCCTTCCCT	XP_011519350.1:n.3551-318_3551-276delinsCTCCCCTCCCCTCCTCCCTCC...
XM_011521048.2:c.3551-318_3551-276delinsCTCCCCTCCCCTCCTCCCTCCCCTCCTTCCTCCCTCCTTCCCT	XP_011519350.1:n.3551-318_3551-276delinsCTCCCCTCCCCTCCTCCCTCC...
NM_001845.6:c.3743-318_3743-276delinsCTCCCCTCCCCTCCTCCCTCCCCTCCTTCCTCCCTCCTTCCCT MANE Select	NP_001836.3:n.3743-318_3743-276delinsCTCCCCTCCCCTCCTCCCTCCCCT...