Canonical Allele Identifier: CA805272370

Gene: ANKH OTULIN

Linked Data

• dbSNP Id: rs1216531977
• MyVariant Identifiers: chr5:g.14716629_14716630insA (hg19) ; chr5:g.14716520_14716521insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716525dup , CM000667.2:g.14716525dup	GRCh38
NC_000005.9:g.14716634dup , CM000667.1:g.14716634dup	GRCh37
NC_000005.8:g.14769634dup	NCBI36
NG_008273.1:g.160258dup
NG_008273.2:g.160265dup
NG_051625.1:g.60732dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+185dup (ANKH) MANE Select	ENSP00000284268.6:n.1141+185dup
ENST00000284268.6:c.1141+185dup (ANKH)	ENSP00000284268.6:n.1141+185dup
ENST00000502585.1:n.383+185dup (ANKH)
NM_054027.4:c.1141+185dup (ANKH)	NP_473368.1:n.1141+185dup
NR_046285.1:n.2595dup
NM_054027.5:c.1141+185dup (ANKH)	NP_473368.1:n.1141+185dup
XM_011514151.2:c.*3850dup (OTULIN)	XP_011512453.1:n.*3850dup
XM_017009644.2:c.1057+185dup (ANKH)	XP_016865133.1:n.1057+185dup
NM_054027.6:c.1141+185dup (ANKH) MANE Select	NP_473368.1:n.1141+185dup