Canonical Allele Identifier: CA2800580999

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169809_110169810insCCCC , CM000675.2:g.110169809_110169810insCCCC	GRCh38
NC_000013.10:g.110822156_110822157insCCCC , CM000675.1:g.110822156_110822157insCCCC	GRCh37
NC_000013.9:g.109620157_109620158insCCCC	NCBI36
NG_011544.2:g.142340_142341insGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-48_3743-47insGGGG MANE Select	ENSP00000364979.4:n.3743-48_3743-47insGGGG
ENST00000375820.8:c.3743-48_3743-47insGGGG	ENSP00000364979.4:n.3743-48_3743-47insGGGG
NM_001845.5:c.3743-48_3743-47insGGGG	NP_001836.3:n.3743-48_3743-47insGGGG
XM_011521048.1:c.3551-48_3551-47insGGGG	XP_011519350.1:n.3551-48_3551-47insGGGG
XM_011521048.2:c.3551-48_3551-47insGGGG	XP_011519350.1:n.3551-48_3551-47insGGGG
NM_001845.6:c.3743-48_3743-47insGGGG MANE Select	NP_001836.3:n.3743-48_3743-47insGGGG