Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856683_88856697del , CM000678.2:g.88856683_88856697del	GRCh38
NC_000016.9:g.88923091_88923105del , CM000678.1:g.88923091_88923105del	GRCh37
NC_000016.8:g.87450592_87450606del	NCBI36
NG_008667.1:g.5271_5285del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.120+62_120+76del (GALNS) MANE Select	ENSP00000268695.5:n.120+62_120+76del
ENST00000268695.9:c.120+62_120+76del (GALNS)	ENSP00000268695.5:n.120+62_120+76del
ENST00000564365.5:c.-398+437_-398+451del (TRAPPC2L)	ENSP00000455447.1:n.-398+437_-398+451del
ENST00000565364.1:n.85+62_85+76del (GALNS)
ENST00000567525.5:c.69+62_69+76del (GALNS)	ENSP00000454484.1:n.69+62_69+76del
ENST00000568311.1:c.120+62_120+76del (GALNS)	ENSP00000455006.1:n.120+62_120+76del
ENST00000568613.5:c.69+62_69+76del (GALNS)	ENSP00000457921.1:n.69+62_69+76del
ENST00000569433.1:c.120+62_120+76del (GALNS)	ENSP00000456884.1:n.120+62_120+76del
NM_000512.4:c.120+62_120+76del (GALNS)	NP_000503.1:n.120+62_120+76del
XM_005256301.2:c.120+62_120+76del (GALNS)	XP_005256358.1:n.120+62_120+76del
XM_005256302.1:c.-33+62_-33+76del (GALNS)	XP_005256359.1:n.-33+62_-33+76del
XM_011522982.1:c.-33+62_-33+76del (GALNS)	XP_011521284.1:n.-33+62_-33+76del
XM_011522984.1:c.-33+62_-33+76del (GALNS)	XP_011521286.1:n.-33+62_-33+76del
NM_001323543.1:c.-312+62_-312+76del (GALNS)	NP_001310472.1:n.-312+62_-312+76del
NM_001323544.1:c.-33+62_-33+76del (GALNS)	NP_001310473.1:n.-33+62_-33+76del
NR_134671.1:n.27+437_27+451del (TRAPPC2L)
XM_005256301.3:c.120+62_120+76del (GALNS)	XP_005256358.1:n.120+62_120+76del
XM_011522982.2:c.-33+62_-33+76del (GALNS)	XP_011521284.1:n.-33+62_-33+76del
XM_017023113.1:c.-312+62_-312+76del (GALNS)	XP_016878602.1:n.-312+62_-312+76del
NM_000512.5:c.120+62_120+76del (GALNS) MANE Select	NP_000503.1:n.120+62_120+76del
NM_001323543.2:c.-312+62_-312+76del (GALNS)	NP_001310472.1:n.-312+62_-312+76del
NM_001323544.2:c.-33+62_-33+76del (GALNS)	NP_001310473.1:n.-33+62_-33+76del
NR_134671.2:n.27+437_27+451del (TRAPPC2L)