Canonical Allele Identifier: CA1528880639

Gene: ANKH OTULIN

Linked Data

• dbSNP Id: rs1737464581

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716473_14716474del , CM000667.2:g.14716473_14716474del	GRCh38
NC_000005.9:g.14716582_14716583del , CM000667.1:g.14716582_14716583del	GRCh37
NC_000005.8:g.14769582_14769583del	NCBI36
NG_008273.1:g.160305_160306del
NG_008273.2:g.160312_160313del
NG_051625.1:g.60680_60681del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+232_1141+233del (ANKH) MANE Select	ENSP00000284268.6:n.1141+232_1141+233del
ENST00000284268.6:c.1141+232_1141+233del (ANKH)	ENSP00000284268.6:n.1141+232_1141+233del
ENST00000502585.1:n.383+232_383+233del (ANKH)
NM_054027.4:c.1141+232_1141+233del (ANKH)	NP_473368.1:n.1141+232_1141+233del
NR_046285.1:n.2543_2544del
NM_054027.5:c.1141+232_1141+233del (ANKH)	NP_473368.1:n.1141+232_1141+233del
XM_011514151.2:c.*3798_*3799del (OTULIN)	XP_011512453.1:n.*3798_*3799del
XM_017009644.2:c.1057+232_1057+233del (ANKH)	XP_016865133.1:n.1057+232_1057+233del
NM_054027.6:c.1141+232_1141+233del (ANKH) MANE Select	NP_473368.1:n.1141+232_1141+233del