Canonical Allele Identifier: CA1528880562

Gene: ANKH OTULIN

Linked Data

• dbSNP Id: rs1737456545

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716322_14716326del , CM000667.2:g.14716322_14716326del	GRCh38
NC_000005.9:g.14716431_14716435del , CM000667.1:g.14716431_14716435del	GRCh37
NC_000005.8:g.14769431_14769435del	NCBI36
NG_008273.1:g.160454_160458del
NG_008273.2:g.160461_160465del
NG_051625.1:g.60529_60533del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+381_1141+385del (ANKH) MANE Select	ENSP00000284268.6:n.1141+381_1141+385del
ENST00000284268.6:c.1141+381_1141+385del (ANKH)	ENSP00000284268.6:n.1141+381_1141+385del
ENST00000502585.1:n.383+381_383+385del (ANKH)
NM_054027.4:c.1141+381_1141+385del (ANKH)	NP_473368.1:n.1141+381_1141+385del
NR_046285.1:n.2492-100_2492-96del
NM_054027.5:c.1141+381_1141+385del (ANKH)	NP_473368.1:n.1141+381_1141+385del
XM_011514151.2:c.*3647_*3651del (OTULIN)	XP_011512453.1:n.*3647_*3651del
XM_017009644.2:c.1057+381_1057+385del (ANKH)	XP_016865133.1:n.1057+381_1057+385del
NM_054027.6:c.1141+381_1141+385del (ANKH) MANE Select	NP_473368.1:n.1141+381_1141+385del