Canonical Allele Identifier: CA715978418

Gene: HYKK

Linked Data

• dbSNP Id: rs1198957676
• gnomAD v3: 15-78513635-CTGAT-C
• gnomAD v4: 15-78513635-CTGAT-C
• MyVariant Identifiers: chr15:g.78805978_78805981del (hg19) ; chr15:g.78513636_78513639del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78513639_78513642del , CM000677.2:g.78513639_78513642del	GRCh38
NC_000015.9:g.78805981_78805984del , CM000677.1:g.78805981_78805984del	GRCh37
NC_000015.8:g.76593036_76593039del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388988.9:c.337+214_337+217del MANE Select	ENSP00000373640.4:n.337+214_337+217del
ENST00000388988.8:c.337+214_337+217del	ENSP00000373640.4:n.337+214_337+217del
ENST00000408962.6:c.337+214_337+217del	ENSP00000386197.2:n.337+214_337+217del
ENST00000563233.2:c.337+214_337+217del	ENSP00000454850.1:n.337+214_337+217del
ENST00000566289.5:c.337+214_337+217del	ENSP00000456614.1:n.337+214_337+217del
ENST00000566332.5:c.337+214_337+217del	ENSP00000457154.1:n.337+214_337+217del
ENST00000569878.5:c.337+214_337+217del	ENSP00000455459.1:n.337+214_337+217del
NM_001013619.2:c.337+214_337+217del	NP_001013641.2:n.337+214_337+217del
NM_001083612.1:c.337+214_337+217del	NP_001077081.1:n.337+214_337+217del
XM_011521231.1:c.337+214_337+217del	XP_011519533.1:n.337+214_337+217del
XR_243078.3:n.432+214_432+217del
NM_001013619.3:c.337+214_337+217del	NP_001013641.2:n.337+214_337+217del
NM_001013619.4:c.337+214_337+217del MANE Select	NP_001013641.2:n.337+214_337+217del
NM_001083612.2:c.337+214_337+217del	NP_001077081.1:n.337+214_337+217del