Canonical Allele Identifier: CA417720830

Gene: POMGNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46198540_46198548dup , CM000663.2:g.46198540_46198548dup	GRCh38
NC_000001.10:g.46664212_46664220dup , CM000663.1:g.46664212_46664220dup	GRCh37
NC_000001.9:g.46436799_46436807dup	NCBI36
NG_009205.2:g.26764_26772dup
NG_009205.3:g.26764_26772dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001243766.1:c.-50-671_-50-663dup	NP_001230695.1:n.-50-671_-50-663dup
NM_001243766.2:c.-50-671_-50-663dup	NP_001230695.2:n.-50-671_-50-663dup
ENST00000371992.1:c.-50-671_-50-663dup	ENSP00000361060.1:n.-50-671_-50-663dup
ENST00000396420.7:c.-50-671_-50-663dup	ENSP00000379698.3:n.-50-671_-50-663dup
ENST00000497439.6:n.123-671_123-663dup
ENST00000685275.1:n.107+267_107+275dup
ENST00000685833.1:n.96-671_96-663dup
ENST00000686252.1:n.252-671_252-663dup
ENST00000687683.1:c.-50-671_-50-663dup	ENSP00000508522.1:n.-50-671_-50-663dup
ENST00000693223.1:n.599-671_599-663dup