Canonical Allele Identifier: CA274904
Gene: GALNS HGNC NCBI
TRAPPC2L HGNC NCBI

Linked Data

dbSNP Id: rs794726887

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88856775_88856780del , CM000678.2:g.88856775_88856780del GRCh38
NC_000016.9:g.88923183_88923188del , CM000678.1:g.88923183_88923188del GRCh37
NC_000016.8:g.87450684_87450689del NCBI36
NG_008667.1:g.5195_5200del

Transcript Alleles

HGVS Amino-acid change
ENST00000268695.10:c.106_111del (GALNS) MANE Select ENSP00000268695.5:p.Leu36_Leu37del
ENST00000268695.9:c.106_111del (GALNS) ENSP00000268695.5:p.Leu36_Leu37del
ENST00000564365.5:c.-398+529_-398+534del (TRAPPC2L) ENSP00000455447.1:n.-398+529_-398+534del
ENST00000565364.1:n.71_76del (GALNS)
ENST00000567525.5:c.55_60del (GALNS) ENSP00000454484.1:p.Leu19_Leu20del
ENST00000568311.1:c.106_111del (GALNS) ENSP00000455006.1:p.Leu36_Leu37del
ENST00000568613.5:c.55_60del (GALNS) ENSP00000457921.1:p.Leu19_Leu20del
ENST00000569433.1:c.106_111del (GALNS) ENSP00000456884.1:p.Leu36_Leu37del
NM_000512.4:c.106_111del (GALNS) NP_000503.1:p.Leu36_Leu37del
XM_005256301.2:c.106_111del (GALNS) XP_005256358.1:p.Leu36_Leu37del
XM_005256302.1:c.-47_-42del (GALNS) XP_005256359.1:n.-47_-42del
XM_011522982.1:c.-47_-42del (GALNS) XP_011521284.1:n.-47_-42del
XM_011522984.1:c.-47_-42del (GALNS) XP_011521286.1:n.-47_-42del
NM_001323543.1:c.-326_-321del (GALNS) NP_001310472.1:n.-326_-321del
NM_001323544.1:c.-47_-42del (GALNS) NP_001310473.1:n.-47_-42del
NR_134671.1:n.27+529_27+534del (TRAPPC2L)
XM_005256301.3:c.106_111del (GALNS) XP_005256358.1:p.Leu36_Leu37del
XM_011522982.2:c.-47_-42del (GALNS) XP_011521284.1:n.-47_-42del
XM_017023113.1:c.-326_-321del (GALNS) XP_016878602.1:n.-326_-321del
NM_000512.5:c.106_111del (GALNS) MANE Select NP_000503.1:p.Leu36_Leu37del
NM_001323543.2:c.-326_-321del (GALNS) NP_001310472.1:n.-326_-321del
NM_001323544.2:c.-47_-42del (GALNS) NP_001310473.1:n.-47_-42del
NR_134671.2:n.27+529_27+534del (TRAPPC2L)