Canonical Allele Identifier: CA157916692

Gene: GCK

Linked Data

• dbSNP Id: rs912065800
• gnomAD v3: 7-44149180-GAAGT-G
• gnomAD v4: 7-44149180-GAAGT-G
• MyVariant Identifiers: chr7:g.44188780_44188783del (hg19) ; chr7:g.44149181_44149184del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149184_44149187del , CM000669.2:g.44149184_44149187del	GRCh38
NC_000007.13:g.44188783_44188786del , CM000669.1:g.44188783_44188786del	GRCh37
NC_000007.12:g.44155308_44155311del	NCBI36
NG_008847.1:g.45240_45243del
NG_008847.2:g.53987_53990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*677+576_*677+579del	ENSP00000379142.4:n.*677+576_*677+579del
ENST00000616242.5:c.679+576_679+579del	ENSP00000482149.2:n.679+576_679+579del
ENST00000682635.1:n.1741_1744del
ENST00000345378.7:c.682+576_682+579del	ENSP00000223366.2:n.682+576_682+579del
ENST00000403799.8:c.679+576_679+579del MANE Select	ENSP00000384247.3:n.679+576_679+579del
ENST00000671824.1:c.679+576_679+579del	ENSP00000500264.1:n.679+576_679+579del
ENST00000673284.1:c.679+576_679+579del	ENSP00000499852.1:n.679+576_679+579del
ENST00000345378.6:c.682+576_682+579del	ENSP00000223366.2:n.682+576_682+579del
ENST00000395796.7:c.676+576_676+579del	ENSP00000379142.3:n.676+576_676+579del
ENST00000403799.7:c.679+576_679+579del	ENSP00000384247.3:n.679+576_679+579del
ENST00000437084.1:c.628+576_628+579del	ENSP00000402840.1:n.628+576_628+579del
ENST00000616242.4:c.676+576_676+579del	ENSP00000482149.1:n.676+576_676+579del
NM_000162.3:c.679+576_679+579del	NP_000153.1:n.679+576_679+579del
NM_033507.1:c.682+576_682+579del	NP_277042.1:n.682+576_682+579del
NM_033508.1:c.676+576_676+579del	NP_277043.1:n.676+576_676+579del
XR_927223.1:n.96_99del
NM_000162.4:c.679+576_679+579del	NP_000153.1:n.679+576_679+579del
NM_001354800.1:c.679+576_679+579del	NP_001341729.1:n.679+576_679+579del
NM_033507.2:c.682+576_682+579del	NP_277042.1:n.682+576_682+579del
NM_033508.2:c.676+576_676+579del	NP_277043.1:n.676+576_676+579del
XR_927223.2:n.96_99del
NM_000162.5:c.679+576_679+579del MANE Select	NP_000153.1:n.679+576_679+579del
NM_033507.3:c.682+576_682+579del	NP_277042.1:n.682+576_682+579del
NM_033508.3:c.676+576_676+579del	NP_277043.1:n.676+576_676+579del