Canonical Allele Identifier: CA2682575176
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44150947-C-CCGG
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150949_44150951dup , CM000669.2:g.44150949_44150951dup GRCh38
NC_000007.13:g.44190548_44190550dup , CM000669.1:g.44190548_44190550dup GRCh37
NC_000007.12:g.44157073_44157075dup NCBI36
NG_008847.1:g.43474_43476dup
NG_008847.2:g.52221_52223dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*481+6_*481+8dup ENSP00000379142.4:n.*481+6_*481+8dup
ENST00000616242.5:c.483+6_483+8dup ENSP00000482149.2:n.483+6_483+8dup
ENST00000682635.1:n.969+6_969+8dup
ENST00000345378.7:c.486+6_486+8dup ENSP00000223366.2:n.486+6_486+8dup
ENST00000403799.8:c.483+6_483+8dup MANE Select ENSP00000384247.3:n.483+6_483+8dup
ENST00000671824.1:c.483+6_483+8dup ENSP00000500264.1:n.483+6_483+8dup
ENST00000673284.1:c.483+6_483+8dup ENSP00000499852.1:n.483+6_483+8dup
ENST00000345378.6:c.486+6_486+8dup ENSP00000223366.2:n.486+6_486+8dup
ENST00000395796.7:c.480+6_480+8dup ENSP00000379142.3:n.480+6_480+8dup
ENST00000403799.7:c.483+6_483+8dup ENSP00000384247.3:n.483+6_483+8dup
ENST00000437084.1:c.432+6_432+8dup ENSP00000402840.1:n.432+6_432+8dup
ENST00000616242.4:c.480+6_480+8dup ENSP00000482149.1:n.480+6_480+8dup
NM_000162.3:c.483+6_483+8dup NP_000153.1:n.483+6_483+8dup
NM_033507.1:c.486+6_486+8dup NP_277042.1:n.486+6_486+8dup
NM_033508.1:c.480+6_480+8dup NP_277043.1:n.480+6_480+8dup
NM_000162.4:c.483+6_483+8dup NP_000153.1:n.483+6_483+8dup
NM_001354800.1:c.483+6_483+8dup NP_001341729.1:n.483+6_483+8dup
NM_033507.2:c.486+6_486+8dup NP_277042.1:n.486+6_486+8dup
NM_033508.2:c.480+6_480+8dup NP_277043.1:n.480+6_480+8dup
NM_000162.5:c.483+6_483+8dup MANE Select NP_000153.1:n.483+6_483+8dup
NM_033507.3:c.486+6_486+8dup NP_277042.1:n.486+6_486+8dup
NM_033508.3:c.480+6_480+8dup NP_277043.1:n.480+6_480+8dup
Search 100 bp 5'
Search 100 bp 3'