Canonical Allele Identifier: CA557885570

Gene: ANKH OTULIN

Linked Data

• dbSNP Id: rs1270301320
• gnomAD v2: 5-14706976-GC-G
• gnomAD v3: 5-14706867-GC-G
• gnomAD v4: 5-14706867-GC-G
• MyVariant Identifiers: chr5:g.14706977del (hg19) ; chr5:g.14706868del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14706869del , CM000667.2:g.14706869del	GRCh38
NC_000005.9:g.14706978del , CM000667.1:g.14706978del	GRCh37
NC_000005.8:g.14759978del	NCBI36
NG_008273.1:g.169911del
NG_008273.2:g.169918del
NG_051625.1:g.51076del

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.*4329del (ANKH) MANE Select	ENSP00000284268.6:n.*4329del
ENST00000284268.6:c.*4329del (ANKH)	ENSP00000284268.6:n.*4329del
NM_054027.4:c.*4329del (ANKH)	NP_473368.1:n.*4329del
XM_011514151.1:c.*47-5853del (OTULIN)	XP_011512453.1:n.*47-5853del
XM_011514152.1:c.*47-2069del (OTULIN)	XP_011512454.1:n.*47-2069del
NM_054027.5:c.*4329del (ANKH)	NP_473368.1:n.*4329del
XM_011514151.2:c.*47-5853del (OTULIN)	XP_011512453.1:n.*47-5853del
XM_011514152.2:c.*47-2069del (OTULIN)	XP_011512454.1:n.*47-2069del
NM_054027.6:c.*4329del (ANKH) MANE Select	NP_473368.1:n.*4329del