Canonical Allele Identifier: CA2838763850

Gene: GALNS TRAPPC2L

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856799del , CM000678.2:g.88856799del	GRCh38
NC_000016.9:g.88923207del , CM000678.1:g.88923207del	GRCh37
NC_000016.8:g.87450708del	NCBI36
NG_008667.1:g.5168del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.79del (GALNS) MANE Select	ENSP00000268695.5:p.Ala27ProfsTer?
ENST00000268695.9:c.79del (GALNS)	ENSP00000268695.5:p.Ala27ProfsTer?
ENST00000564365.5:c.-398+553del (TRAPPC2L)	ENSP00000455447.1:n.-398+553del
ENST00000565364.1:n.44del (GALNS)
ENST00000567525.5:c.28del (GALNS)	ENSP00000454484.1:p.Ala10ProfsTer?
ENST00000568311.1:c.79del (GALNS)	ENSP00000455006.1:p.Ala27ProfsTer?
ENST00000568613.5:c.28del (GALNS)	ENSP00000457921.1:p.Ala10ProfsTer?
ENST00000569433.1:c.79del (GALNS)	ENSP00000456884.1:p.Ala27ProfsTer?
NM_000512.4:c.79del (GALNS)	NP_000503.1:p.Ala27ProfsTer?
XM_005256301.2:c.79del (GALNS)	XP_005256358.1:p.Ala27ProfsTer?
XM_005256302.1:c.-74del (GALNS)	XP_005256359.1:n.-74del
XM_011522982.1:c.-74del (GALNS)	XP_011521284.1:n.-74del
XM_011522984.1:c.-74del (GALNS)	XP_011521286.1:n.-74del
NM_001323543.1:c.-353del (GALNS)	NP_001310472.1:n.-353del
NM_001323544.1:c.-74del (GALNS)	NP_001310473.1:n.-74del
NR_134671.1:n.27+553del (TRAPPC2L)
XM_005256301.3:c.79del (GALNS)	XP_005256358.1:p.Ala27ProfsTer?
XM_011522982.2:c.-74del (GALNS)	XP_011521284.1:n.-74del
XM_017023113.1:c.-353del (GALNS)	XP_016878602.1:n.-353del
NM_000512.5:c.79del (GALNS) MANE Select	NP_000503.1:p.Ala27ProfsTer?
NM_001323543.2:c.-353del (GALNS)	NP_001310472.1:n.-353del
NM_001323544.2:c.-74del (GALNS)	NP_001310473.1:n.-74del
NR_134671.2:n.27+553del (TRAPPC2L)