Canonical Allele Identifier: CA1528880597

Gene: ANKH OTULIN

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716397_14716400delinsCAGG , CM000667.2:g.14716397_14716400delinsCAGG	GRCh38
NC_000005.9:g.14716506_14716509delinsCAGG , CM000667.1:g.14716506_14716509delinsCAGG	GRCh37
NC_000005.8:g.14769506_14769509delinsCAGG	NCBI36
NG_008273.1:g.160379_160382delinsCCTG
NG_008273.2:g.160386_160389delinsCCTG
NG_051625.1:g.60604_60607delinsCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+306_1141+309delinsCCTG (ANKH) MANE Select	ENSP00000284268.6:n.1141+306_1141+309delinsCCTG
ENST00000284268.6:c.1141+306_1141+309delinsCCTG (ANKH)	ENSP00000284268.6:n.1141+306_1141+309delinsCCTG
ENST00000502585.1:n.383+306_383+309delinsCCTG (ANKH)
NM_054027.4:c.1141+306_1141+309delinsCCTG (ANKH)	NP_473368.1:n.1141+306_1141+309delinsCCTG
NR_046285.1:n.2492-25_2492-22delinsCAGG
NM_054027.5:c.1141+306_1141+309delinsCCTG (ANKH)	NP_473368.1:n.1141+306_1141+309delinsCCTG
XM_011514151.2:c.*3722_*3725delinsCAGG (OTULIN)	XP_011512453.1:n.*3722_*3725delinsCAGG
XM_017009644.2:c.1057+306_1057+309delinsCCTG (ANKH)	XP_016865133.1:n.1057+306_1057+309delinsCCTG
NM_054027.6:c.1141+306_1141+309delinsCCTG (ANKH) MANE Select	NP_473368.1:n.1141+306_1141+309delinsCCTG