Canonical Allele Identifier: CA557887336

Gene: ANKH OTULIN

Linked Data

• dbSNP Id: rs1287631349
• gnomAD v2: 5-14716371-CGAG-C
• gnomAD v3: 5-14716262-CGAG-C
• gnomAD v4: 5-14716262-CGAG-C
• MyVariant Identifiers: chr5:g.14716372_14716374del (hg19) ; chr5:g.14716263_14716265del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716269_14716271del , CM000667.2:g.14716269_14716271del	GRCh38
NC_000005.9:g.14716378_14716380del , CM000667.1:g.14716378_14716380del	GRCh37
NC_000005.8:g.14769378_14769380del	NCBI36
NG_008273.1:g.160514_160516del
NG_008273.2:g.160521_160523del
NG_051625.1:g.60476_60478del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1141+441_1141+443del (ANKH) MANE Select	ENSP00000284268.6:n.1141+441_1141+443del
ENST00000284268.6:c.1141+441_1141+443del (ANKH)	ENSP00000284268.6:n.1141+441_1141+443del
ENST00000502585.1:n.383+441_383+443del (ANKH)
NM_054027.4:c.1141+441_1141+443del (ANKH)	NP_473368.1:n.1141+441_1141+443del
NR_046285.1:n.2492-153_2492-151del
NM_054027.5:c.1141+441_1141+443del (ANKH)	NP_473368.1:n.1141+441_1141+443del
XM_011514151.2:c.*3594_*3596del (OTULIN)	XP_011512453.1:n.*3594_*3596del
XM_017009644.2:c.1057+441_1057+443del (ANKH)	XP_016865133.1:n.1057+441_1057+443del
NM_054027.6:c.1141+441_1141+443del (ANKH) MANE Select	NP_473368.1:n.1141+441_1141+443del