Canonical Allele Identifier: CA917420010

Gene: ANKH OTULIN

Linked Data

• dbSNP Id: rs1561015963
• gnomAD v4: 5-14711172-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14711173dup , CM000667.2:g.14711173dup	GRCh38
NC_000005.9:g.14711282dup , CM000667.1:g.14711282dup	GRCh37
NC_000005.8:g.14764282dup	NCBI36
NG_008273.1:g.165606dup
NG_008273.2:g.165613dup
NG_051625.1:g.55380dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.*24dup (ANKH) MANE Select	ENSP00000284268.6:n.*24dup
ENST00000284268.6:c.*24dup (ANKH)	ENSP00000284268.6:n.*24dup
ENST00000502585.1:n.745dup (ANKH)
NM_054027.4:c.*24dup (ANKH)	NP_473368.1:n.*24dup
XM_011514151.1:c.*47-1549dup (OTULIN)	XP_011512453.1:n.*47-1549dup
NM_054027.5:c.*24dup (ANKH)	NP_473368.1:n.*24dup
XM_011514151.2:c.*47-1549dup (OTULIN)	XP_011512453.1:n.*47-1549dup
XM_017009644.2:c.*24dup (ANKH)	XP_016865133.1:n.*24dup
NM_054027.6:c.*24dup (ANKH) MANE Select	NP_473368.1:n.*24dup