Canonical Allele Identifier: CA1528880643

Gene: ANKH OTULIN

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716477_14716478delinsAT , CM000667.2:g.14716477_14716478delinsAT	GRCh38
NC_000005.9:g.14716586_14716587delinsAT , CM000667.1:g.14716586_14716587delinsAT	GRCh37
NC_000005.8:g.14769586_14769587delinsAT	NCBI36
NG_008273.1:g.160301_160302delinsAT
NG_008273.2:g.160308_160309delinsAT
NG_051625.1:g.60684_60685delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+228_1141+229delinsAT (ANKH) MANE Select	ENSP00000284268.6:n.1141+228_1141+229delinsAT
ENST00000284268.6:c.1141+228_1141+229delinsAT (ANKH)	ENSP00000284268.6:n.1141+228_1141+229delinsAT
ENST00000502585.1:n.383+228_383+229delinsAT (ANKH)
NM_054027.4:c.1141+228_1141+229delinsAT (ANKH)	NP_473368.1:n.1141+228_1141+229delinsAT
NR_046285.1:n.2547_2548delinsAT
NM_054027.5:c.1141+228_1141+229delinsAT (ANKH)	NP_473368.1:n.1141+228_1141+229delinsAT
XM_011514151.2:c.*3802_*3803delinsAT (OTULIN)	XP_011512453.1:n.*3802_*3803delinsAT
XM_017009644.2:c.1057+228_1057+229delinsAT (ANKH)	XP_016865133.1:n.1057+228_1057+229delinsAT
NM_054027.6:c.1141+228_1141+229delinsAT (ANKH) MANE Select	NP_473368.1:n.1141+228_1141+229delinsAT