Canonical Allele Identifier: CA2800581014

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169939_110169946dup , CM000675.2:g.110169939_110169946dup	GRCh38
NC_000013.10:g.110822286_110822293dup , CM000675.1:g.110822286_110822293dup	GRCh37
NC_000013.9:g.109620287_109620294dup	NCBI36
NG_011544.2:g.142215_142222dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-173_3743-166dup MANE Select	ENSP00000364979.4:n.3743-173_3743-166dup
ENST00000375820.8:c.3743-173_3743-166dup	ENSP00000364979.4:n.3743-173_3743-166dup
NM_001845.5:c.3743-173_3743-166dup	NP_001836.3:n.3743-173_3743-166dup
XM_011521048.1:c.3551-173_3551-166dup	XP_011519350.1:n.3551-173_3551-166dup
XM_011521048.2:c.3551-173_3551-166dup	XP_011519350.1:n.3551-173_3551-166dup
NM_001845.6:c.3743-173_3743-166dup MANE Select	NP_001836.3:n.3743-173_3743-166dup