Canonical Allele Identifier: CA805272227

Gene: ANKH OTULIN

Linked Data

• dbSNP Id: rs1395435913
• gnomAD v3: 5-14716334-AAT-A
• gnomAD v4: 5-14716334-AAT-A
• MyVariant Identifiers: chr5:g.14716444_14716445del (hg19) ; chr5:g.14716335_14716336del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716336_14716337del , CM000667.2:g.14716336_14716337del	GRCh38
NC_000005.9:g.14716445_14716446del , CM000667.1:g.14716445_14716446del	GRCh37
NC_000005.8:g.14769445_14769446del	NCBI36
NG_008273.1:g.160443_160444del
NG_008273.2:g.160450_160451del
NG_051625.1:g.60543_60544del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+370_1141+371del (ANKH) MANE Select	ENSP00000284268.6:n.1141+370_1141+371del
ENST00000284268.6:c.1141+370_1141+371del (ANKH)	ENSP00000284268.6:n.1141+370_1141+371del
ENST00000502585.1:n.383+370_383+371del (ANKH)
NM_054027.4:c.1141+370_1141+371del (ANKH)	NP_473368.1:n.1141+370_1141+371del
NR_046285.1:n.2492-86_2492-85del
NM_054027.5:c.1141+370_1141+371del (ANKH)	NP_473368.1:n.1141+370_1141+371del
XM_011514151.2:c.*3661_*3662del (OTULIN)	XP_011512453.1:n.*3661_*3662del
XM_017009644.2:c.1057+370_1057+371del (ANKH)	XP_016865133.1:n.1057+370_1057+371del
NM_054027.6:c.1141+370_1141+371del (ANKH) MANE Select	NP_473368.1:n.1141+370_1141+371del