Canonical Allele Identifier: CA1569098

Gene: KHK

Linked Data

• dbSNP Id: rs772067227
• ExAC: 2:27315172 CTGCAGGGACCCTCCCTGTGCTT / C
• gnomAD v2: 2-27315172-CTGCAGGGACCCTCCCTGTGCTT-C
• gnomAD v4: 2-27092304-CTGCAGGGACCCTCCCTGTGCTT-C
• MyVariant Identifiers: chr2:g.27315173_27315194del (hg19) ; chr2:g.27092305_27092326del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27092311_27092332del , CM000664.2:g.27092311_27092332del	GRCh38
NC_000002.11:g.27315179_27315200del , CM000664.1:g.27315179_27315200del	GRCh37
NC_000002.10:g.27168683_27168704del	NCBI36
NG_012199.1:g.10569_10590del
NG_012199.2:g.10569_10590del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260599.11:c.93-21_93del
ENST00000429697.2:c.93-21_93del
ENST00000260598.10:c.93-21_93del
ENST00000260598.9:c.93-21_93del
ENST00000260599.10:c.93-21_93del
ENST00000429697.1:c.93-21_93del
ENST00000490823.5:n.441-21_441del
NM_000221.2:c.93-21_93del
NM_006488.2:c.93-21_93del
XM_005264294.2:c.93-21_93del
XM_005264296.2:c.93-21_93del
XM_005264298.2:c.93-4418_93-4397del	XP_005264355.1:n.93-4418_93-4397del
XM_006712008.2:c.93-21_93del
XM_006712009.2:c.93-21_93del
XM_006712010.2:c.93-21_93del
XM_006712011.2:c.93-21_93del
XM_006712012.2:c.93-21_93del
XM_006712013.2:c.93-21_93del
XM_006712014.2:c.93-4418_93-4397del	XP_006712077.1:n.93-4418_93-4397del
XM_005264294.4:c.93-21_93del
XM_005264296.4:c.93-21_93del
XM_005264298.4:c.93-4418_93-4397del	XP_005264355.1:n.93-4418_93-4397del
XM_006712008.4:c.93-21_93del
XM_006712009.4:c.93-21_93del
XM_006712010.4:c.93-21_93del
XM_006712011.4:c.93-21_93del
XM_006712012.4:c.93-21_93del
XM_006712013.4:c.93-21_93del
XM_006712014.4:c.93-4418_93-4397del	XP_006712077.1:n.93-4418_93-4397del
XM_017004060.2:c.93-21_93del
XM_017004061.2:c.93-21_93del
NM_006488.3:c.93-21_93del
NM_000221.3:c.93-21_93del