Canonical Allele Identifier: CA1569498

Gene: CGREF1 KHK

Linked Data

• ClinVar Variation Id: 335500
• ClinVar RCV Id: RCV000262199
• dbSNP Id: rs370253620
• ExAC: 2:27322636 TCA / T
• gnomAD v2: 2-27322636-TCA-T
• gnomAD v3: 2-27099768-TCA-T
• gnomAD v4: 2-27099768-TCA-T
• MyVariant Identifiers: chr2:g.27322642_27322643del (hg19) ; chr2:g.27322637_27322638del (hg19) ; chr2:g.27099774_27099775del (hg38) ; chr2:g.27099770_27099771del (hg38) ; chr2:g.27099769_27099770del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27099774_27099775del , CM000664.2:g.27099774_27099775del	GRCh38
NC_000002.11:g.27322642_27322643del , CM000664.1:g.27322642_27322643del	GRCh37
NC_000002.10:g.27176146_27176147del	NCBI36
NG_012199.1:g.18032_18033del
NG_012199.2:g.18032_18033del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000640154.2:c.561_562del (CGREF1)
ENST00000260599.11:c.*24_*25del (KHK)	ENSP00000260599.6:n.*24_*25del
ENST00000429697.2:c.*24_*25del (KHK)	ENSP00000404741.2:n.*24_*25del
ENST00000260598.10:c.*24_*25del (KHK) MANE Select	ENSP00000260598.5:n.*24_*25del
ENST00000260598.9:c.*24_*25del (KHK)	ENSP00000260598.5:n.*24_*25del
ENST00000260599.10:c.*24_*25del (KHK)	ENSP00000260599.6:n.*24_*25del
ENST00000402550.5:c.*14_*15del (CGREF1)	ENSP00000385103.1:n.*14_*15del
ENST00000440612.5:c.*377_*378del (CGREF1)	ENSP00000394306.1:n.*377_*378del
ENST00000464371.1:n.847_848del (KHK)
ENST00000490823.5:n.1269_1270del (KHK)
NM_000221.2:c.*24_*25del (KHK)	NP_000212.1:n.*24_*25del
NM_001166240.1:c.*14_*15del (CGREF1)	NP_001159712.1:n.*14_*15del
NM_001301324.1:c.*91_*92del (CGREF1)	NP_001288253.1:n.*91_*92del
NM_006488.2:c.*24_*25del (KHK)	NP_006479.1:n.*24_*25del
XM_005264294.2:c.*24_*25del (KHK)	XP_005264351.1:n.*24_*25del
XM_005264296.2:c.*24_*25del (KHK)	XP_005264353.1:n.*24_*25del
XM_005264298.2:c.*24_*25del (KHK)	XP_005264355.1:n.*24_*25del
XM_005264294.4:c.*24_*25del (KHK)	XP_005264351.1:n.*24_*25del
XM_005264296.4:c.*24_*25del (KHK)	XP_005264353.1:n.*24_*25del
XM_005264298.4:c.*24_*25del (KHK)	XP_005264355.1:n.*24_*25del
XM_017004060.2:c.*24_*25del (KHK)	XP_016859549.1:n.*24_*25del
XM_017004061.2:c.*24_*25del (KHK)	XP_016859550.1:n.*24_*25del
NM_006488.3:c.*24_*25del (KHK) MANE Select	NP_006479.1:n.*24_*25del
NM_000221.3:c.*24_*25del (KHK)	NP_000212.1:n.*24_*25del
NM_001166240.2:c.*14_*15del (CGREF1)	NP_001159712.1:n.*14_*15del
NM_001301324.2:c.*91_*92del (CGREF1)	NP_001288253.1:n.*91_*92del