Canonical Allele Identifier: CA2634899420
Gene: GALNS HGNC NCBI
TRAPPC2L HGNC NCBI

Linked Data

gnomAD v4: 16-88856710-C-CCAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88856711_88856712insAAC , CM000678.2:g.88856711_88856712insAAC GRCh38
NC_000016.9:g.88923119_88923120insAAC , CM000678.1:g.88923119_88923120insAAC GRCh37
NC_000016.8:g.87450620_87450621insAAC NCBI36
NG_008667.1:g.5256_5257insTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.120+47_120+48insTTG (GALNS) MANE Select ENSP00000268695.5:n.120+47_120+48insTTG
ENST00000268695.9:c.120+47_120+48insTTG (GALNS) ENSP00000268695.5:n.120+47_120+48insTTG
ENST00000564365.5:c.-398+465_-398+466insAAC (TRAPPC2L) ENSP00000455447.1:n.-398+465_-398+466insAAC
ENST00000565364.1:n.85+47_85+48insTTG (GALNS)
ENST00000567525.5:c.69+47_69+48insTTG (GALNS) ENSP00000454484.1:n.69+47_69+48insTTG
ENST00000568311.1:c.120+47_120+48insTTG (GALNS) ENSP00000455006.1:n.120+47_120+48insTTG
ENST00000568613.5:c.69+47_69+48insTTG (GALNS) ENSP00000457921.1:n.69+47_69+48insTTG
ENST00000569433.1:c.120+47_120+48insTTG (GALNS) ENSP00000456884.1:n.120+47_120+48insTTG
NM_000512.4:c.120+47_120+48insTTG (GALNS) NP_000503.1:n.120+47_120+48insTTG
XM_005256301.2:c.120+47_120+48insTTG (GALNS) XP_005256358.1:n.120+47_120+48insTTG
XM_005256302.1:c.-33+47_-33+48insTTG (GALNS) XP_005256359.1:n.-33+47_-33+48insTTG
XM_011522982.1:c.-33+47_-33+48insTTG (GALNS) XP_011521284.1:n.-33+47_-33+48insTTG
XM_011522984.1:c.-33+47_-33+48insTTG (GALNS) XP_011521286.1:n.-33+47_-33+48insTTG
NM_001323543.1:c.-312+47_-312+48insTTG (GALNS) NP_001310472.1:n.-312+47_-312+48insTTG
NM_001323544.1:c.-33+47_-33+48insTTG (GALNS) NP_001310473.1:n.-33+47_-33+48insTTG
NR_134671.1:n.27+465_27+466insAAC (TRAPPC2L)
XM_005256301.3:c.120+47_120+48insTTG (GALNS) XP_005256358.1:n.120+47_120+48insTTG
XM_011522982.2:c.-33+47_-33+48insTTG (GALNS) XP_011521284.1:n.-33+47_-33+48insTTG
XM_017023113.1:c.-312+47_-312+48insTTG (GALNS) XP_016878602.1:n.-312+47_-312+48insTTG
NM_000512.5:c.120+47_120+48insTTG (GALNS) MANE Select NP_000503.1:n.120+47_120+48insTTG
NM_001323543.2:c.-312+47_-312+48insTTG (GALNS) NP_001310472.1:n.-312+47_-312+48insTTG
NM_001323544.2:c.-33+47_-33+48insTTG (GALNS) NP_001310473.1:n.-33+47_-33+48insTTG
NR_134671.2:n.27+465_27+466insAAC (TRAPPC2L)
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