Canonical Allele Identifier: CA2634898532

Gene: GALNS TRAPPC2L

Linked Data

• gnomAD v4: 16-88856603-TCCTCCCCGCGCGGGGCCTCCCCCCTTCCCCAAGGGGCCTCCCCTCACCTCTCCCCCCACCCCGCCCGCCCTTCCCCCACCTCGCTCCTCCCTCCATCCGCCCCTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856613_88856718del , CM000678.2:g.88856613_88856718del	GRCh38
NC_000016.9:g.88923021_88923126del , CM000678.1:g.88923021_88923126del	GRCh37
NC_000016.8:g.87450522_87450627del	NCBI36
NG_008667.1:g.5258_5363del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.120+49_120+154del (GALNS) MANE Select	ENSP00000268695.5:n.120+49_120+154del
ENST00000268695.9:c.120+49_120+154del (GALNS)	ENSP00000268695.5:n.120+49_120+154del
ENST00000564365.5:c.-398+367_-398+472del (TRAPPC2L)	ENSP00000455447.1:n.-398+367_-398+472del
ENST00000565364.1:n.85+49_85+154del (GALNS)
ENST00000567525.5:c.69+49_69+154del (GALNS)	ENSP00000454484.1:n.69+49_69+154del
ENST00000568311.1:c.120+49_120+154del (GALNS)	ENSP00000455006.1:n.120+49_120+154del
ENST00000568613.5:c.69+49_69+154del (GALNS)	ENSP00000457921.1:n.69+49_69+154del
ENST00000569433.1:c.120+49_120+154del (GALNS)	ENSP00000456884.1:n.120+49_120+154del
NM_000512.4:c.120+49_120+154del (GALNS)	NP_000503.1:n.120+49_120+154del
XM_005256301.2:c.120+49_120+154del (GALNS)	XP_005256358.1:n.120+49_120+154del
XM_005256302.1:c.-33+49_-33+154del (GALNS)	XP_005256359.1:n.-33+49_-33+154del
XM_011522982.1:c.-33+49_-33+154del (GALNS)	XP_011521284.1:n.-33+49_-33+154del
XM_011522984.1:c.-33+49_-33+154del (GALNS)	XP_011521286.1:n.-33+49_-33+154del
NM_001323543.1:c.-312+49_-312+154del (GALNS)	NP_001310472.1:n.-312+49_-312+154del
NM_001323544.1:c.-33+49_-33+154del (GALNS)	NP_001310473.1:n.-33+49_-33+154del
NR_134671.1:n.27+367_27+472del (TRAPPC2L)
XM_005256301.3:c.120+49_120+154del (GALNS)	XP_005256358.1:n.120+49_120+154del
XM_011522982.2:c.-33+49_-33+154del (GALNS)	XP_011521284.1:n.-33+49_-33+154del
XM_017023113.1:c.-312+49_-312+154del (GALNS)	XP_016878602.1:n.-312+49_-312+154del
NM_000512.5:c.120+49_120+154del (GALNS) MANE Select	NP_000503.1:n.120+49_120+154del
NM_001323543.2:c.-312+49_-312+154del (GALNS)	NP_001310472.1:n.-312+49_-312+154del
NM_001323544.2:c.-33+49_-33+154del (GALNS)	NP_001310473.1:n.-33+49_-33+154del
NR_134671.2:n.27+367_27+472del (TRAPPC2L)