Canonical Allele Identifier: CA980347349

Gene: GALNS TRAPPC2L

Linked Data

• dbSNP Id: rs1967908467
• gnomAD v3: 16-88856582-C-CT
• gnomAD v4: 16-88856582-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856582_88856583insT , CM000678.2:g.88856582_88856583insT	GRCh38
NC_000016.9:g.88922990_88922991insT , CM000678.1:g.88922990_88922991insT	GRCh37
NC_000016.8:g.87450491_87450492insT	NCBI36
NG_008667.1:g.5384_5385insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.120+175_120+176insA (GALNS) MANE Select	ENSP00000268695.5:n.120+175_120+176insA
ENST00000268695.9:c.120+175_120+176insA (GALNS)	ENSP00000268695.5:n.120+175_120+176insA
ENST00000564365.5:c.-398+336_-398+337insT (TRAPPC2L)	ENSP00000455447.1:n.-398+336_-398+337insT
ENST00000565364.1:n.85+175_85+176insA (GALNS)
ENST00000567525.5:c.69+175_69+176insA (GALNS)	ENSP00000454484.1:n.69+175_69+176insA
ENST00000568311.1:c.120+175_120+176insA (GALNS)	ENSP00000455006.1:n.120+175_120+176insA
ENST00000568613.5:c.69+175_69+176insA (GALNS)	ENSP00000457921.1:n.69+175_69+176insA
ENST00000569433.1:c.120+175_120+176insA (GALNS)	ENSP00000456884.1:n.120+175_120+176insA
NM_000512.4:c.120+175_120+176insA (GALNS)	NP_000503.1:n.120+175_120+176insA
XM_005256301.2:c.120+175_120+176insA (GALNS)	XP_005256358.1:n.120+175_120+176insA
XM_005256302.1:c.-33+175_-33+176insA (GALNS)	XP_005256359.1:n.-33+175_-33+176insA
XM_011522982.1:c.-33+175_-33+176insA (GALNS)	XP_011521284.1:n.-33+175_-33+176insA
XM_011522984.1:c.-33+175_-33+176insA (GALNS)	XP_011521286.1:n.-33+175_-33+176insA
NM_001323543.1:c.-312+175_-312+176insA (GALNS)	NP_001310472.1:n.-312+175_-312+176insA
NM_001323544.1:c.-33+175_-33+176insA (GALNS)	NP_001310473.1:n.-33+175_-33+176insA
NR_134671.1:n.27+336_27+337insT (TRAPPC2L)
XM_005256301.3:c.120+175_120+176insA (GALNS)	XP_005256358.1:n.120+175_120+176insA
XM_011522982.2:c.-33+175_-33+176insA (GALNS)	XP_011521284.1:n.-33+175_-33+176insA
XM_017023113.1:c.-312+175_-312+176insA (GALNS)	XP_016878602.1:n.-312+175_-312+176insA
NM_000512.5:c.120+175_120+176insA (GALNS) MANE Select	NP_000503.1:n.120+175_120+176insA
NM_001323543.2:c.-312+175_-312+176insA (GALNS)	NP_001310472.1:n.-312+175_-312+176insA
NM_001323544.2:c.-33+175_-33+176insA (GALNS)	NP_001310473.1:n.-33+175_-33+176insA
NR_134671.2:n.27+336_27+337insT (TRAPPC2L)