Canonical Allele Identifier: CA980347283
Gene: GALNS HGNC NCBI
TRAPPC2L HGNC NCBI

Linked Data

gnomAD v3: 16-88856552-GAGGGGCCTCCCCCTCCCCGCACGGGGATACCCCCCGTCCCCTCCCCCTCCTCCTCCCCGCGCGGGGCCTCCCCCCTTCCCCA-G
gnomAD v4: 16-88856552-GAGGGGCCTCCCCCTCCCCGCACGGGGATACCCCCCGTCCCCTCCCCCTCCTCCTCCCCGCGCGGGGCCTCCCCCCTTCCCCA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88856565_88856646del , CM000678.2:g.88856565_88856646del GRCh38
NC_000016.9:g.88922973_88923054del , CM000678.1:g.88922973_88923054del GRCh37
NC_000016.8:g.87450474_87450555del NCBI36
NG_008667.1:g.5333_5414del

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.120+124_120+205del (GALNS) MANE Select ENSP00000268695.5:n.120+124_120+205del
ENST00000268695.9:c.120+124_120+205del (GALNS) ENSP00000268695.5:n.120+124_120+205del
ENST00000564365.5:c.-398+319_-398+400del (TRAPPC2L) ENSP00000455447.1:n.-398+319_-398+400del
ENST00000565364.1:n.85+124_85+205del (GALNS)
ENST00000567525.5:c.69+124_69+205del (GALNS) ENSP00000454484.1:n.69+124_69+205del
ENST00000568311.1:c.120+124_120+205del (GALNS) ENSP00000455006.1:n.120+124_120+205del
ENST00000568613.5:c.69+124_69+205del (GALNS) ENSP00000457921.1:n.69+124_69+205del
ENST00000569433.1:c.120+124_120+205del (GALNS) ENSP00000456884.1:n.120+124_120+205del
NM_000512.4:c.120+124_120+205del (GALNS) NP_000503.1:n.120+124_120+205del
XM_005256301.2:c.120+124_120+205del (GALNS) XP_005256358.1:n.120+124_120+205del
XM_005256302.1:c.-33+124_-33+205del (GALNS) XP_005256359.1:n.-33+124_-33+205del
XM_011522982.1:c.-33+124_-33+205del (GALNS) XP_011521284.1:n.-33+124_-33+205del
XM_011522984.1:c.-33+124_-33+205del (GALNS) XP_011521286.1:n.-33+124_-33+205del
NM_001323543.1:c.-312+124_-312+205del (GALNS) NP_001310472.1:n.-312+124_-312+205del
NM_001323544.1:c.-33+124_-33+205del (GALNS) NP_001310473.1:n.-33+124_-33+205del
NR_134671.1:n.27+319_27+400del (TRAPPC2L)
XM_005256301.3:c.120+124_120+205del (GALNS) XP_005256358.1:n.120+124_120+205del
XM_011522982.2:c.-33+124_-33+205del (GALNS) XP_011521284.1:n.-33+124_-33+205del
XM_017023113.1:c.-312+124_-312+205del (GALNS) XP_016878602.1:n.-312+124_-312+205del
NM_000512.5:c.120+124_120+205del (GALNS) MANE Select NP_000503.1:n.120+124_120+205del
NM_001323543.2:c.-312+124_-312+205del (GALNS) NP_001310472.1:n.-312+124_-312+205del
NM_001323544.2:c.-33+124_-33+205del (GALNS) NP_001310473.1:n.-33+124_-33+205del
NR_134671.2:n.27+319_27+400del (TRAPPC2L)
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