Canonical Allele Identifier: CA805272257

Gene: ANKH OTULIN

Linked Data

• dbSNP Id: rs1468731103
• gnomAD v3: 5-14716371-T-TA
• gnomAD v4: 5-14716371-T-TA
• MyVariant Identifiers: chr5:g.14716480_14716481insA (hg19) ; chr5:g.14716371_14716372insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716372dup , CM000667.2:g.14716372dup	GRCh38
NC_000005.9:g.14716481dup , CM000667.1:g.14716481dup	GRCh37
NC_000005.8:g.14769481dup	NCBI36
NG_008273.1:g.160407dup
NG_008273.2:g.160414dup
NG_051625.1:g.60579dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+334dup (ANKH) MANE Select	ENSP00000284268.6:n.1141+334dup
ENST00000284268.6:c.1141+334dup (ANKH)	ENSP00000284268.6:n.1141+334dup
ENST00000502585.1:n.383+334dup (ANKH)
NM_054027.4:c.1141+334dup (ANKH)	NP_473368.1:n.1141+334dup
NR_046285.1:n.2492-50dup
NM_054027.5:c.1141+334dup (ANKH)	NP_473368.1:n.1141+334dup
XM_011514151.2:c.*3697dup (OTULIN)	XP_011512453.1:n.*3697dup
XM_017009644.2:c.1057+334dup (ANKH)	XP_016865133.1:n.1057+334dup
NM_054027.6:c.1141+334dup (ANKH) MANE Select	NP_473368.1:n.1141+334dup