Canonical Allele Identifier: CA658655961
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 447385
ClinVar RCV Id: RCV000516765
dbSNP Id: rs1400535021

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145598dup , CM000669.2:g.44145598dup GRCh38
NC_000007.13:g.44185197dup , CM000669.1:g.44185197dup GRCh37
NC_000007.12:g.44151722dup NCBI36
NG_008847.1:g.48829dup
NG_008847.2:g.57576dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1153dup ENSP00000379142.4:n.*1153dup
ENST00000616242.5:c.*275dup ENSP00000482149.2:n.*275dup
ENST00000683378.1:n.381dup
ENST00000336642.9:c.189dup ENSP00000338009.5:p.Leu64AlafsTer?
ENST00000345378.7:c.1158dup ENSP00000223366.2:p.Leu387AlafsTer?
ENST00000403799.8:c.1155dup MANE Select ENSP00000384247.3:p.Leu386AlafsTer?
ENST00000671824.1:c.1218dup ENSP00000500264.1:p.Leu407AlafsTer?
ENST00000672743.1:n.167dup
ENST00000673284.1:c.1155dup ENSP00000499852.1:p.Leu386AlafsTer?
ENST00000336642.8:c.207dup ENSP00000338009.4:p.Leu70AlafsTer?
ENST00000345378.6:c.1158dup ENSP00000223366.2:p.Leu387AlafsTer?
ENST00000395796.7:c.1152dup ENSP00000379142.3:p.Leu385AlafsTer?
ENST00000403799.7:c.1155dup ENSP00000384247.3:p.Leu386AlafsTer?
ENST00000437084.1:c.1104dup ENSP00000402840.1:p.Leu369AlafsTer?
ENST00000459642.1:n.535dup
ENST00000616242.4:c.1152dup ENSP00000482149.1:p.Leu385AlafsTer?
NM_000162.3:c.1155dup NP_000153.1:p.Leu386AlafsTer?
NM_033507.1:c.1158dup NP_277042.1:p.Leu387AlafsTer?
NM_033508.1:c.1152dup NP_277043.1:p.Leu385AlafsTer?
NM_000162.4:c.1155dup NP_000153.1:p.Leu386AlafsTer?
NM_001354800.1:c.1155dup NP_001341729.1:p.Leu386AlafsTer?
NM_001354801.1:c.144dup NP_001341730.1:p.Leu49AlafsTer?
NM_001354802.1:c.15dup NP_001341731.1:p.Leu6AlafsTer?
NM_001354803.1:c.189dup NP_001341732.1:p.Leu64AlafsTer?
NM_033507.2:c.1158dup NP_277042.1:p.Leu387AlafsTer?
NM_033508.2:c.1152dup NP_277043.1:p.Leu385AlafsTer?
XM_024446707.1:c.15dup XP_024302475.1:p.Leu6AlafsTer?
NM_000162.5:c.1155dup MANE Select NP_000153.1:p.Leu386AlafsTer?
NM_033507.3:c.1158dup NP_277042.1:p.Leu387AlafsTer?
NM_033508.3:c.1152dup NP_277043.1:p.Leu385AlafsTer?
NM_001354803.2:c.189dup NP_001341732.1:p.Leu64AlafsTer?