Canonical Allele Identifier: CA824564968

Gene: KCNK5

Linked Data

• dbSNP Id: rs1220854789
• gnomAD v3: 6-39215957-G-GCAGC
• gnomAD v4: 6-39215957-G-GCAGC
• MyVariant Identifiers: chr6:g.39183733_39183734insCAGC (hg19) ; chr6:g.39215957_39215958insCAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39215960_39215963dup , CM000668.2:g.39215960_39215963dup	GRCh38
NC_000006.11:g.39183736_39183739dup , CM000668.1:g.39183736_39183739dup	GRCh37
NC_000006.10:g.39291714_39291717dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359534.4:c.186+12965_186+12968dup MANE Select	ENSP00000352527.3:n.186+12965_186+12968dup
ENST00000359534.3:c.186+12965_186+12968dup	ENSP00000352527.3:n.186+12965_186+12968dup
NM_003740.3:c.186+12965_186+12968dup	NP_003731.1:n.186+12965_186+12968dup
XM_005249456.1:c.186+12965_186+12968dup	XP_005249513.1:n.186+12965_186+12968dup
NM_003740.4:c.186+12965_186+12968dup MANE Select	NP_003731.1:n.186+12965_186+12968dup