Canonical Allele Identifier: CA2241338094
Gene: GALNS HGNC NCBI
TRAPPC2L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88856761_88856763delinsGTC , CM000678.2:g.88856761_88856763delinsGTC GRCh38
NC_000016.9:g.88923169_88923171delinsGTC , CM000678.1:g.88923169_88923171delinsGTC GRCh37
NC_000016.8:g.87450670_87450672delinsGTC NCBI36
NG_008667.1:g.5204_5206delinsGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.115_117delinsGAC (GALNS) MANE Select ENSP00000268695.5:p.Asp39=
ENST00000268695.9:c.115_117delinsGAC (GALNS) ENSP00000268695.5:p.Asp39=
ENST00000564365.5:c.-398+515_-398+517delinsGTC (TRAPPC2L) ENSP00000455447.1:n.-398+515_-398+517delinsGTC
ENST00000565364.1:n.80_82delinsGAC (GALNS)
ENST00000567525.5:c.64_66delinsGAC (GALNS) ENSP00000454484.1:p.Asp22=
ENST00000568311.1:c.115_117delinsGAC (GALNS) ENSP00000455006.1:p.Asp39=
ENST00000568613.5:c.64_66delinsGAC (GALNS) ENSP00000457921.1:p.Asp22=
ENST00000569433.1:c.115_117delinsGAC (GALNS) ENSP00000456884.1:p.Asp39=
NM_000512.4:c.115_117delinsGAC (GALNS) NP_000503.1:p.Asp39=
XM_005256301.2:c.115_117delinsGAC (GALNS) XP_005256358.1:p.Asp39=
XM_005256302.1:c.-38_-36delinsGAC (GALNS) XP_005256359.1:n.-38_-36delinsGAC
XM_011522982.1:c.-38_-36delinsGAC (GALNS) XP_011521284.1:n.-38_-36delinsGAC
XM_011522984.1:c.-38_-36delinsGAC (GALNS) XP_011521286.1:n.-38_-36delinsGAC
NM_001323543.1:c.-317_-315delinsGAC (GALNS) NP_001310472.1:n.-317_-315delinsGAC
NM_001323544.1:c.-38_-36delinsGAC (GALNS) NP_001310473.1:n.-38_-36delinsGAC
NR_134671.1:n.27+515_27+517delinsGTC (TRAPPC2L)
XM_005256301.3:c.115_117delinsGAC (GALNS) XP_005256358.1:p.Asp39=
XM_011522982.2:c.-38_-36delinsGAC (GALNS) XP_011521284.1:n.-38_-36delinsGAC
XM_017023113.1:c.-317_-315delinsGAC (GALNS) XP_016878602.1:n.-317_-315delinsGAC
NM_000512.5:c.115_117delinsGAC (GALNS) MANE Select NP_000503.1:p.Asp39=
NM_001323543.2:c.-317_-315delinsGAC (GALNS) NP_001310472.1:n.-317_-315delinsGAC
NM_001323544.2:c.-38_-36delinsGAC (GALNS) NP_001310473.1:n.-38_-36delinsGAC
NR_134671.2:n.27+515_27+517delinsGTC (TRAPPC2L)