Canonical Allele Identifier: CA1528880538

Gene: ANKH OTULIN

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716262_14716265delinsCGAG , CM000667.2:g.14716262_14716265delinsCGAG	GRCh38
NC_000005.9:g.14716371_14716374delinsCGAG , CM000667.1:g.14716371_14716374delinsCGAG	GRCh37
NC_000005.8:g.14769371_14769374delinsCGAG	NCBI36
NG_008273.1:g.160514_160517delinsCTCG
NG_008273.2:g.160521_160524delinsCTCG
NG_051625.1:g.60469_60472delinsCGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+441_1141+444delinsCTCG (ANKH) MANE Select	ENSP00000284268.6:n.1141+441_1141+444delinsCTCG
ENST00000284268.6:c.1141+441_1141+444delinsCTCG (ANKH)	ENSP00000284268.6:n.1141+441_1141+444delinsCTCG
ENST00000502585.1:n.383+441_383+444delinsCTCG (ANKH)
NM_054027.4:c.1141+441_1141+444delinsCTCG (ANKH)	NP_473368.1:n.1141+441_1141+444delinsCTCG
NR_046285.1:n.2492-160_2492-157delinsCGAG
NM_054027.5:c.1141+441_1141+444delinsCTCG (ANKH)	NP_473368.1:n.1141+441_1141+444delinsCTCG
XM_011514151.2:c.*3587_*3590delinsCGAG (OTULIN)	XP_011512453.1:n.*3587_*3590delinsCGAG
XM_017009644.2:c.1057+441_1057+444delinsCTCG (ANKH)	XP_016865133.1:n.1057+441_1057+444delinsCTCG
NM_054027.6:c.1141+441_1141+444delinsCTCG (ANKH) MANE Select	NP_473368.1:n.1141+441_1141+444delinsCTCG