Canonical Allele Identifier: CA1088085529

Gene: KCNK5

Linked Data

• dbSNP Id: rs1771424603
• gnomAD v3: 6-39215886-CTT-C
• gnomAD v4: 6-39215886-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39215887_39215888del , CM000668.2:g.39215887_39215888del	GRCh38
NC_000006.11:g.39183663_39183664del , CM000668.1:g.39183663_39183664del	GRCh37
NC_000006.10:g.39291641_39291642del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359534.4:c.186+13038_186+13039del MANE Select	ENSP00000352527.3:n.186+13038_186+13039del
ENST00000359534.3:c.186+13038_186+13039del	ENSP00000352527.3:n.186+13038_186+13039del
NM_003740.3:c.186+13038_186+13039del	NP_003731.1:n.186+13038_186+13039del
XM_005249456.1:c.186+13038_186+13039del	XP_005249513.1:n.186+13038_186+13039del
NM_003740.4:c.186+13038_186+13039del MANE Select	NP_003731.1:n.186+13038_186+13039del