Canonical Allele Identifier: CA114719577

Gene: ANKH OTULIN

Linked Data

• dbSNP Id: rs779187621
• gnomAD v2: 5-14716365-C-CTT
• gnomAD v3: 5-14716256-C-CTT
• gnomAD v4: 5-14716256-C-CTT
• MyVariant Identifiers: chr5:g.14716365_14716366insTT (hg19) ; chr5:g.14716256_14716257insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716258_14716259dup , CM000667.2:g.14716258_14716259dup	GRCh38
NC_000005.9:g.14716367_14716368dup , CM000667.1:g.14716367_14716368dup	GRCh37
NC_000005.8:g.14769367_14769368dup	NCBI36
NG_008273.1:g.160521_160522dup
NG_008273.2:g.160528_160529dup
NG_051625.1:g.60465_60466dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+448_1141+449dup (ANKH) MANE Select	ENSP00000284268.6:n.1141+448_1141+449dup
ENST00000284268.6:c.1141+448_1141+449dup (ANKH)	ENSP00000284268.6:n.1141+448_1141+449dup
ENST00000502585.1:n.383+448_383+449dup (ANKH)
NM_054027.4:c.1141+448_1141+449dup (ANKH)	NP_473368.1:n.1141+448_1141+449dup
NR_046285.1:n.2492-164_2492-163dup
NM_054027.5:c.1141+448_1141+449dup (ANKH)	NP_473368.1:n.1141+448_1141+449dup
XM_011514151.2:c.*3583_*3584dup (OTULIN)	XP_011512453.1:n.*3583_*3584dup
XM_017009644.2:c.1057+448_1057+449dup (ANKH)	XP_016865133.1:n.1057+448_1057+449dup
NM_054027.6:c.1141+448_1141+449dup (ANKH) MANE Select	NP_473368.1:n.1141+448_1141+449dup