Canonical Allele Identifier: CA1528949216

Gene: ANKH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871579_14871582delinsCGCG , CM000667.2:g.14871579_14871582delinsCGCG	GRCh38
NC_000005.9:g.14871688_14871691delinsCGCG , CM000667.1:g.14871688_14871691delinsCGCG	GRCh37
NC_000005.8:g.14924688_14924691delinsCGCG	NCBI36
NG_008273.1:g.5197_5200delinsCGCG
NG_008273.2:g.5204_5207delinsCGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-135_-132delinsCGCG MANE Select	ENSP00000284268.6:n.-135_-132delinsCGCG
ENST00000284268.6:c.-135_-132delinsCGCG	ENSP00000284268.6:n.-135_-132delinsCGCG
ENST00000505140.1:c.-135_-132delinsCGCG	ENSP00000426332.1:n.-135_-132delinsCGCG
NM_054027.4:c.-135_-132delinsCGCG	NP_473368.1:n.-135_-132delinsCGCG
XM_011514067.1:c.-135_-132delinsCGCG	XP_011512369.1:n.-135_-132delinsCGCG
NM_054027.5:c.-135_-132delinsCGCG	NP_473368.1:n.-135_-132delinsCGCG
NM_054027.6:c.-135_-132delinsCGCG MANE Select	NP_473368.1:n.-135_-132delinsCGCG