Canonical Allele Identifier: CA624209425

Gene: GALNS TRAPPC2L

Linked Data

• dbSNP Id: rs1162002343
• gnomAD v2: 16-88922987-A-AT
• gnomAD v3: 16-88856579-A-AT
• gnomAD v4: 16-88856579-A-AT
• MyVariant Identifiers: chr16:g.88922987_88922988insT (hg19) ; chr16:g.88856579_88856580insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856580dup , CM000678.2:g.88856580dup	GRCh38
NC_000016.9:g.88922988dup , CM000678.1:g.88922988dup	GRCh37
NC_000016.8:g.87450489dup	NCBI36
NG_008667.1:g.5387dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.120+178dup (GALNS) MANE Select	ENSP00000268695.5:n.120+178dup
ENST00000268695.9:c.120+178dup (GALNS)	ENSP00000268695.5:n.120+178dup
ENST00000564365.5:c.-398+334dup (TRAPPC2L)	ENSP00000455447.1:n.-398+334dup
ENST00000565364.1:n.85+178dup (GALNS)
ENST00000567525.5:c.69+178dup (GALNS)	ENSP00000454484.1:n.69+178dup
ENST00000568311.1:c.120+178dup (GALNS)	ENSP00000455006.1:n.120+178dup
ENST00000568613.5:c.69+178dup (GALNS)	ENSP00000457921.1:n.69+178dup
ENST00000569433.1:c.120+178dup (GALNS)	ENSP00000456884.1:n.120+178dup
NM_000512.4:c.120+178dup (GALNS)	NP_000503.1:n.120+178dup
XM_005256301.2:c.120+178dup (GALNS)	XP_005256358.1:n.120+178dup
XM_005256302.1:c.-33+178dup (GALNS)	XP_005256359.1:n.-33+178dup
XM_011522982.1:c.-33+178dup (GALNS)	XP_011521284.1:n.-33+178dup
XM_011522984.1:c.-33+178dup (GALNS)	XP_011521286.1:n.-33+178dup
NM_001323543.1:c.-312+178dup (GALNS)	NP_001310472.1:n.-312+178dup
NM_001323544.1:c.-33+178dup (GALNS)	NP_001310473.1:n.-33+178dup
NR_134671.1:n.27+334dup (TRAPPC2L)
XM_005256301.3:c.120+178dup (GALNS)	XP_005256358.1:n.120+178dup
XM_011522982.2:c.-33+178dup (GALNS)	XP_011521284.1:n.-33+178dup
XM_017023113.1:c.-312+178dup (GALNS)	XP_016878602.1:n.-312+178dup
XR_933884.2:n.2dup
NM_000512.5:c.120+178dup (GALNS) MANE Select	NP_000503.1:n.120+178dup
NM_001323543.2:c.-312+178dup (GALNS)	NP_001310472.1:n.-312+178dup
NM_001323544.2:c.-33+178dup (GALNS)	NP_001310473.1:n.-33+178dup
NR_134671.2:n.27+334dup (TRAPPC2L)