Canonical Allele Identifier: CA2118733202

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110170034_110170075delinsAGGGAGGGAAGGAGGGAGGAAGGAGGGGAGGGAGGAGGGGAG , CM000675.2:g.110170034_110170075delinsAGGGAGGGAAGGAGGGAGGAAGGAGGGGAGGGAGGAGGGGAG	GRCh38
NC_000013.10:g.110822381_110822422delinsAGGGAGGGAAGGAGGGAGGAAGGAGGGGAGGGAGGAGGGGAG , CM000675.1:g.110822381_110822422delinsAGGGAGGGAAGGAGGGAGGAAGGAGGGGAGGGAGGAGGGGAG	GRCh37
NC_000013.9:g.109620382_109620423delinsAGGGAGGGAAGGAGGGAGGAAGGAGGGGAGGGAGGAGGGGAG	NCBI36
NG_011544.2:g.142075_142116delinsCTCCCCTCCTCCCTCCCCTCCTTCCTCCCTCCTTCCCTCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-313_3743-272delinsCTCCCCTCCTCCCTCCCCTCCTTCCTCCCTCCTTCCCTCCCT MANE Select	ENSP00000364979.4:n.3743-313_3743-272delinsCTCCCCTCCTCCCTCCCC...
ENST00000375820.8:c.3743-313_3743-272delinsCTCCCCTCCTCCCTCCCCTCCTTCCTCCCTCCTTCCCTCCCT	ENSP00000364979.4:n.3743-313_3743-272delinsCTCCCCTCCTCCCTCCCC...
NM_001845.5:c.3743-313_3743-272delinsCTCCCCTCCTCCCTCCCCTCCTTCCTCCCTCCTTCCCTCCCT	NP_001836.3:n.3743-313_3743-272delinsCTCCCCTCCTCCCTCCCCTCCTTC...
XM_011521048.1:c.3551-313_3551-272delinsCTCCCCTCCTCCCTCCCCTCCTTCCTCCCTCCTTCCCTCCCT	XP_011519350.1:n.3551-313_3551-272delinsCTCCCCTCCTCCCTCCCCTCC...
XM_011521048.2:c.3551-313_3551-272delinsCTCCCCTCCTCCCTCCCCTCCTTCCTCCCTCCTTCCCTCCCT	XP_011519350.1:n.3551-313_3551-272delinsCTCCCCTCCTCCCTCCCCTCC...
NM_001845.6:c.3743-313_3743-272delinsCTCCCCTCCTCCCTCCCCTCCTTCCTCCCTCCTTCCCTCCCT MANE Select	NP_001836.3:n.3743-313_3743-272delinsCTCCCCTCCTCCCTCCCCTCCTTC...