Canonical Allele Identifier: CA2682574062

Gene: GCK

Linked Data

• gnomAD v4: 7-44149950-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149951_44149952del , CM000669.2:g.44149951_44149952del	GRCh38
NC_000007.13:g.44189550_44189551del , CM000669.1:g.44189550_44189551del	GRCh37
NC_000007.12:g.44156075_44156076del	NCBI36
NG_008847.1:g.44472_44473del
NG_008847.2:g.53219_53220del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*577+17_*577+18del	ENSP00000379142.4:n.*577+17_*577+18del
ENST00000616242.5:c.579+17_579+18del	ENSP00000482149.2:n.579+17_579+18del
ENST00000682635.1:n.1065+17_1065+18del
ENST00000345378.7:c.582+17_582+18del	ENSP00000223366.2:n.582+17_582+18del
ENST00000403799.8:c.579+17_579+18del MANE Select	ENSP00000384247.3:n.579+17_579+18del
ENST00000671824.1:c.579+17_579+18del	ENSP00000500264.1:n.579+17_579+18del
ENST00000673284.1:c.579+17_579+18del	ENSP00000499852.1:n.579+17_579+18del
ENST00000345378.6:c.582+17_582+18del	ENSP00000223366.2:n.582+17_582+18del
ENST00000395796.7:c.576+17_576+18del	ENSP00000379142.3:n.576+17_576+18del
ENST00000403799.7:c.579+17_579+18del	ENSP00000384247.3:n.579+17_579+18del
ENST00000437084.1:c.528+17_528+18del	ENSP00000402840.1:n.528+17_528+18del
ENST00000616242.4:c.576+17_576+18del	ENSP00000482149.1:n.576+17_576+18del
NM_000162.3:c.579+17_579+18del	NP_000153.1:n.579+17_579+18del
NM_033507.1:c.582+17_582+18del	NP_277042.1:n.582+17_582+18del
NM_033508.1:c.576+17_576+18del	NP_277043.1:n.576+17_576+18del
NM_000162.4:c.579+17_579+18del	NP_000153.1:n.579+17_579+18del
NM_001354800.1:c.579+17_579+18del	NP_001341729.1:n.579+17_579+18del
NM_033507.2:c.582+17_582+18del	NP_277042.1:n.582+17_582+18del
NM_033508.2:c.576+17_576+18del	NP_277043.1:n.576+17_576+18del
NM_000162.5:c.579+17_579+18del MANE Select	NP_000153.1:n.579+17_579+18del
NM_033507.3:c.582+17_582+18del	NP_277042.1:n.582+17_582+18del
NM_033508.3:c.576+17_576+18del	NP_277043.1:n.576+17_576+18del