Canonical Allele Identifier: CA2733021606

Gene: GALNS TRAPPC2L

Linked Data

• dbSNP Id: rs2143013635

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856846del , CM000678.2:g.88856846del	GRCh38
NC_000016.9:g.88923254del , CM000678.1:g.88923254del	GRCh37
NC_000016.8:g.87450755del	NCBI36
NG_008667.1:g.5122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.33del (GALNS) MANE Select	ENSP00000268695.5:p.Trp11CysfsTer?
ENST00000268695.9:c.33del (GALNS)	ENSP00000268695.5:p.Trp11CysfsTer?
ENST00000564365.5:c.-398+600del (TRAPPC2L)	ENSP00000455447.1:n.-398+600del
ENST00000568311.1:c.33del (GALNS)	ENSP00000455006.1:p.Trp11CysfsTer?
ENST00000569433.1:c.33del (GALNS)	ENSP00000456884.1:p.Trp11CysfsTer?
NM_000512.4:c.33del (GALNS)	NP_000503.1:p.Trp11CysfsTer?
XM_005256301.2:c.33del (GALNS)	XP_005256358.1:p.Trp11CysfsTer?
NM_001323543.1:c.-399del (GALNS)	NP_001310472.1:n.-399del
NM_001323544.1:c.-120del (GALNS)	NP_001310473.1:n.-120del
NR_134671.1:n.27+600del (TRAPPC2L)
XM_005256301.3:c.33del (GALNS)	XP_005256358.1:p.Trp11CysfsTer?
XM_017023113.1:c.-399del (GALNS)	XP_016878602.1:n.-399del
NM_000512.5:c.33del (GALNS) MANE Select	NP_000503.1:p.Trp11CysfsTer?
NM_001323543.2:c.-399del (GALNS)	NP_001310472.1:n.-399del
NM_001323544.2:c.-120del (GALNS)	NP_001310473.1:n.-120del
NR_134671.2:n.27+600del (TRAPPC2L)