Canonical Allele Identifier: CA624209490
Gene: GALNS HGNC NCBI
TRAPPC2L HGNC NCBI

Linked Data

dbSNP Id: rs1306003076
gnomAD v2: 16-88923222-TCCCC-T
gnomAD v4: 16-88856814-TCCCC-T
MyVariant Identifiers: chr16:g.88923223_88923226del (hg19) chr16:g.88856815_88856818del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88856815_88856818del , CM000678.2:g.88856815_88856818del GRCh38
NC_000016.9:g.88923223_88923226del , CM000678.1:g.88923223_88923226del GRCh37
NC_000016.8:g.87450724_87450727del NCBI36
NG_008667.1:g.5149_5152del

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.60_63del (GALNS) MANE Select ENSP00000268695.5:p.Gly21TrpfsTer?
ENST00000268695.9:c.60_63del (GALNS) ENSP00000268695.5:p.Gly21TrpfsTer?
ENST00000564365.5:c.-398+569_-398+572del (TRAPPC2L) ENSP00000455447.1:n.-398+569_-398+572del
ENST00000565364.1:n.25_28del (GALNS)
ENST00000567525.5:c.9_12del (GALNS) ENSP00000454484.1:p.Gly4TrpfsTer?
ENST00000568311.1:c.60_63del (GALNS) ENSP00000455006.1:p.Gly21TrpfsTer?
ENST00000568613.5:c.9_12del (GALNS) ENSP00000457921.1:p.Gly4TrpfsTer?
ENST00000569433.1:c.60_63del (GALNS) ENSP00000456884.1:p.Gly21TrpfsTer?
NM_000512.4:c.60_63del (GALNS) NP_000503.1:p.Gly21TrpfsTer?
XM_005256301.2:c.60_63del (GALNS) XP_005256358.1:p.Gly21TrpfsTer?
XM_005256302.1:c.-93_-90del (GALNS) XP_005256359.1:n.-93_-90del
XM_011522982.1:c.-93_-90del (GALNS) XP_011521284.1:n.-93_-90del
XM_011522984.1:c.-93_-90del (GALNS) XP_011521286.1:n.-93_-90del
NM_001323543.1:c.-372_-369del (GALNS) NP_001310472.1:n.-372_-369del
NM_001323544.1:c.-93_-90del (GALNS) NP_001310473.1:n.-93_-90del
NR_134671.1:n.27+569_27+572del (TRAPPC2L)
XM_005256301.3:c.60_63del (GALNS) XP_005256358.1:p.Gly21TrpfsTer?
XM_011522982.2:c.-93_-90del (GALNS) XP_011521284.1:n.-93_-90del
XM_017023113.1:c.-372_-369del (GALNS) XP_016878602.1:n.-372_-369del
NM_000512.5:c.60_63del (GALNS) MANE Select NP_000503.1:p.Gly21TrpfsTer?
NM_001323543.2:c.-372_-369del (GALNS) NP_001310472.1:n.-372_-369del
NM_001323544.2:c.-93_-90del (GALNS) NP_001310473.1:n.-93_-90del
NR_134671.2:n.27+569_27+572del (TRAPPC2L)
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