Canonical Allele Identifier: CA2682578618
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44144718-CTGCCTCCCCACACAGGATGAGTTCCCAGGGAAGTGAGGCCACAGCAGGATCCAGAGGGCACCCCTTCCCAGAGCCTGGGCCCAGGCGAGGCCAACAGCTCTGACAGTGTGGAAA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44144722_44144835del , CM000669.2:g.44144722_44144835del GRCh38
NC_000007.13:g.44184321_44184434del , CM000669.1:g.44184321_44184434del GRCh37
NC_000007.12:g.44150846_44150959del NCBI36
NG_008847.1:g.49592_49705del
NG_008847.2:g.58339_58452del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1700_*1813del ENSP00000379142.4:n.*1700_*1813del
ENST00000616242.5:c.*822_*935del ENSP00000482149.2:n.*822_*935del
ENST00000683378.1:n.928_1041del
ENST00000336642.9:c.*304_*417del ENSP00000338009.5:n.*304_*417del
ENST00000345378.7:c.*304_*417del ENSP00000223366.2:n.*304_*417del
ENST00000403799.8:c.*304_*417del MANE Select ENSP00000384247.3:n.*304_*417del
ENST00000671824.1:c.*304_*417del ENSP00000500264.1:n.*304_*417del
ENST00000672743.1:n.381+333_381+446del
ENST00000673284.1:c.1369+333_1369+446del ENSP00000499852.1:n.1369+333_1369+446del
ENST00000336642.8:c.754_867del ENSP00000338009.4:n.754_867del
ENST00000345378.6:c.*304_*417del ENSP00000223366.2:n.*304_*417del
ENST00000395796.7:c.*304_*417del ENSP00000379142.3:n.*304_*417del
ENST00000403799.7:c.*304_*417del ENSP00000384247.3:n.*304_*417del
ENST00000459642.1:n.1082_1195del
ENST00000616242.4:c.1699_1812del ENSP00000482149.1:n.1699_1812del
NM_000162.3:c.*304_*417del NP_000153.1:n.*304_*417del
NM_033507.1:c.*304_*417del NP_277042.1:n.*304_*417del
NM_033508.1:c.*304_*417del NP_277043.1:n.*304_*417del
NM_000162.4:c.*304_*417del NP_000153.1:n.*304_*417del
NM_001354800.1:c.1369+333_1369+446del NP_001341729.1:n.1369+333_1369+446del
NM_001354801.1:c.*304_*417del NP_001341730.1:n.*304_*417del
NM_001354802.1:c.229+333_229+446del NP_001341731.1:n.229+333_229+446del
NM_001354803.1:c.*304_*417del NP_001341732.1:n.*304_*417del
NM_033507.2:c.*304_*417del NP_277042.1:n.*304_*417del
NM_033508.2:c.*304_*417del NP_277043.1:n.*304_*417del
XM_024446707.1:c.*304_*417del XP_024302475.1:n.*304_*417del
NM_000162.5:c.*304_*417del MANE Select NP_000153.1:n.*304_*417del
NM_033507.3:c.*304_*417del NP_277042.1:n.*304_*417del
NM_033508.3:c.*304_*417del NP_277043.1:n.*304_*417del
NM_001354803.2:c.*304_*417del NP_001341732.1:n.*304_*417del
Search 100 bp 5'
Search 100 bp 3'