Canonical Allele Identifier: CA2634899336

Gene: GALNS TRAPPC2L

Linked Data

• gnomAD v4: 16-88856702-G-GCCCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856712_88856716dup , CM000678.2:g.88856712_88856716dup	GRCh38
NC_000016.9:g.88923120_88923124dup , CM000678.1:g.88923120_88923124dup	GRCh37
NC_000016.8:g.87450621_87450625dup	NCBI36
NG_008667.1:g.5260_5264dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.120+51_120+55dup (GALNS) MANE Select	ENSP00000268695.5:n.120+51_120+55dup
ENST00000268695.9:c.120+51_120+55dup (GALNS)	ENSP00000268695.5:n.120+51_120+55dup
ENST00000564365.5:c.-398+466_-398+470dup (TRAPPC2L)	ENSP00000455447.1:n.-398+466_-398+470dup
ENST00000565364.1:n.85+51_85+55dup (GALNS)
ENST00000567525.5:c.69+51_69+55dup (GALNS)	ENSP00000454484.1:n.69+51_69+55dup
ENST00000568311.1:c.120+51_120+55dup (GALNS)	ENSP00000455006.1:n.120+51_120+55dup
ENST00000568613.5:c.69+51_69+55dup (GALNS)	ENSP00000457921.1:n.69+51_69+55dup
ENST00000569433.1:c.120+51_120+55dup (GALNS)	ENSP00000456884.1:n.120+51_120+55dup
NM_000512.4:c.120+51_120+55dup (GALNS)	NP_000503.1:n.120+51_120+55dup
XM_005256301.2:c.120+51_120+55dup (GALNS)	XP_005256358.1:n.120+51_120+55dup
XM_005256302.1:c.-33+51_-33+55dup (GALNS)	XP_005256359.1:n.-33+51_-33+55dup
XM_011522982.1:c.-33+51_-33+55dup (GALNS)	XP_011521284.1:n.-33+51_-33+55dup
XM_011522984.1:c.-33+51_-33+55dup (GALNS)	XP_011521286.1:n.-33+51_-33+55dup
NM_001323543.1:c.-312+51_-312+55dup (GALNS)	NP_001310472.1:n.-312+51_-312+55dup
NM_001323544.1:c.-33+51_-33+55dup (GALNS)	NP_001310473.1:n.-33+51_-33+55dup
NR_134671.1:n.27+466_27+470dup (TRAPPC2L)
XM_005256301.3:c.120+51_120+55dup (GALNS)	XP_005256358.1:n.120+51_120+55dup
XM_011522982.2:c.-33+51_-33+55dup (GALNS)	XP_011521284.1:n.-33+51_-33+55dup
XM_017023113.1:c.-312+51_-312+55dup (GALNS)	XP_016878602.1:n.-312+51_-312+55dup
NM_000512.5:c.120+51_120+55dup (GALNS) MANE Select	NP_000503.1:n.120+51_120+55dup
NM_001323543.2:c.-312+51_-312+55dup (GALNS)	NP_001310472.1:n.-312+51_-312+55dup
NM_001323544.2:c.-33+51_-33+55dup (GALNS)	NP_001310473.1:n.-33+51_-33+55dup
NR_134671.2:n.27+466_27+470dup (TRAPPC2L)