Canonical Allele Identifier: CA2241337910

Gene: GALNS TRAPPC2L

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856565_88856588delinsCTCCCCGCACGGGGATACCCCCCG , CM000678.2:g.88856565_88856588delinsCTCCCCGCACGGGGATACCCCCCG	GRCh38
NC_000016.9:g.88922973_88922996delinsCTCCCCGCACGGGGATACCCCCCG , CM000678.1:g.88922973_88922996delinsCTCCCCGCACGGGGATACCCCCCG	GRCh37
NC_000016.8:g.87450474_87450497delinsCTCCCCGCACGGGGATACCCCCCG	NCBI36
NG_008667.1:g.5379_5402delinsCGGGGGGTATCCCCGTGCGGGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.120+170_120+193delinsCGGGGGGTATCCCCGTGCGGGGAG (GALNS) MANE Select	ENSP00000268695.5:n.120+170_120+193delinsCGGGGGGTATCCCCGTGCGG...
ENST00000268695.9:c.120+170_120+193delinsCGGGGGGTATCCCCGTGCGGGGAG (GALNS)	ENSP00000268695.5:n.120+170_120+193delinsCGGGGGGTATCCCCGTGCGG...
ENST00000564365.5:c.-398+319_-398+342delinsCTCCCCGCACGGGGATACCCCCCG (TRAPPC2L)	ENSP00000455447.1:n.-398+319_-398+342delinsCTCCCCGCACGGGGATAC...
ENST00000565364.1:n.85+170_85+193delinsCGGGGGGTATCCCCGTGCGGGGAG (GALNS)
ENST00000567525.5:c.69+170_69+193delinsCGGGGGGTATCCCCGTGCGGGGAG (GALNS)	ENSP00000454484.1:n.69+170_69+193delinsCGGGGGGTATCCCCGTGCGGGG...
ENST00000568311.1:c.120+170_120+193delinsCGGGGGGTATCCCCGTGCGGGGAG (GALNS)	ENSP00000455006.1:n.120+170_120+193delinsCGGGGGGTATCCCCGTGCGG...
ENST00000568613.5:c.69+170_69+193delinsCGGGGGGTATCCCCGTGCGGGGAG (GALNS)	ENSP00000457921.1:n.69+170_69+193delinsCGGGGGGTATCCCCGTGCGGGG...
ENST00000569433.1:c.120+170_120+193delinsCGGGGGGTATCCCCGTGCGGGGAG (GALNS)	ENSP00000456884.1:n.120+170_120+193delinsCGGGGGGTATCCCCGTGCGG...
NM_000512.4:c.120+170_120+193delinsCGGGGGGTATCCCCGTGCGGGGAG (GALNS)	NP_000503.1:n.120+170_120+193delinsCGGGGGGTATCCCCGTGCGGGGAG
XM_005256301.2:c.120+170_120+193delinsCGGGGGGTATCCCCGTGCGGGGAG (GALNS)	XP_005256358.1:n.120+170_120+193delinsCGGGGGGTATCCCCGTGCGGGGA...
XM_005256302.1:c.-33+170_-33+193delinsCGGGGGGTATCCCCGTGCGGGGAG (GALNS)	XP_005256359.1:n.-33+170_-33+193delinsCGGGGGGTATCCCCGTGCGGGGA...
XM_011522982.1:c.-33+170_-33+193delinsCGGGGGGTATCCCCGTGCGGGGAG (GALNS)	XP_011521284.1:n.-33+170_-33+193delinsCGGGGGGTATCCCCGTGCGGGGA...
XM_011522984.1:c.-33+170_-33+193delinsCGGGGGGTATCCCCGTGCGGGGAG (GALNS)	XP_011521286.1:n.-33+170_-33+193delinsCGGGGGGTATCCCCGTGCGGGGA...
NM_001323543.1:c.-312+170_-312+193delinsCGGGGGGTATCCCCGTGCGGGGAG (GALNS)	NP_001310472.1:n.-312+170_-312+193delinsCGGGGGGTATCCCCGTGCGGG...
NM_001323544.1:c.-33+170_-33+193delinsCGGGGGGTATCCCCGTGCGGGGAG (GALNS)	NP_001310473.1:n.-33+170_-33+193delinsCGGGGGGTATCCCCGTGCGGGGA...
NR_134671.1:n.27+319_27+342delinsCTCCCCGCACGGGGATACCCCCCG (TRAPPC2L)
XM_005256301.3:c.120+170_120+193delinsCGGGGGGTATCCCCGTGCGGGGAG (GALNS)	XP_005256358.1:n.120+170_120+193delinsCGGGGGGTATCCCCGTGCGGGGA...
XM_011522982.2:c.-33+170_-33+193delinsCGGGGGGTATCCCCGTGCGGGGAG (GALNS)	XP_011521284.1:n.-33+170_-33+193delinsCGGGGGGTATCCCCGTGCGGGGA...
XM_017023113.1:c.-312+170_-312+193delinsCGGGGGGTATCCCCGTGCGGGGAG (GALNS)	XP_016878602.1:n.-312+170_-312+193delinsCGGGGGGTATCCCCGTGCGGG...
NM_000512.5:c.120+170_120+193delinsCGGGGGGTATCCCCGTGCGGGGAG (GALNS) MANE Select	NP_000503.1:n.120+170_120+193delinsCGGGGGGTATCCCCGTGCGGGGAG
NM_001323543.2:c.-312+170_-312+193delinsCGGGGGGTATCCCCGTGCGGGGAG (GALNS)	NP_001310472.1:n.-312+170_-312+193delinsCGGGGGGTATCCCCGTGCGGG...
NM_001323544.2:c.-33+170_-33+193delinsCGGGGGGTATCCCCGTGCGGGGAG (GALNS)	NP_001310473.1:n.-33+170_-33+193delinsCGGGGGGTATCCCCGTGCGGGGA...
NR_134671.2:n.27+319_27+342delinsCTCCCCGCACGGGGATACCCCCCG (TRAPPC2L)