Canonical Allele Identifier: CA2634898250

Gene: GALNS TRAPPC2L

Linked Data

• gnomAD v4: 16-88856570-C-CCCCCCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856570_88856571insCCCCCGG , CM000678.2:g.88856570_88856571insCCCCCGG	GRCh38
NC_000016.9:g.88922978_88922979insCCCCCGG , CM000678.1:g.88922978_88922979insCCCCCGG	GRCh37
NC_000016.8:g.87450479_87450480insCCCCCGG	NCBI36
NG_008667.1:g.5396_5397insCCGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.120+187_120+188insCCGGGGG (GALNS) MANE Select	ENSP00000268695.5:n.120+187_120+188insCCGGGGG
ENST00000268695.9:c.120+187_120+188insCCGGGGG (GALNS)	ENSP00000268695.5:n.120+187_120+188insCCGGGGG
ENST00000562831.1:c.-93_-92insCCGGGGG (GALNS)	ENSP00000455174.1:n.-93_-92insCCGGGGG
ENST00000564365.5:c.-398+324_-398+325insCCCCCGG (TRAPPC2L)	ENSP00000455447.1:n.-398+324_-398+325insCCCCCGG
ENST00000565364.1:n.85+187_85+188insCCGGGGG (GALNS)
ENST00000567525.5:c.69+187_69+188insCCGGGGG (GALNS)	ENSP00000454484.1:n.69+187_69+188insCCGGGGG
ENST00000568311.1:c.120+187_120+188insCCGGGGG (GALNS)	ENSP00000455006.1:n.120+187_120+188insCCGGGGG
ENST00000568613.5:c.69+187_69+188insCCGGGGG (GALNS)	ENSP00000457921.1:n.69+187_69+188insCCGGGGG
ENST00000569433.1:c.120+187_120+188insCCGGGGG (GALNS)	ENSP00000456884.1:n.120+187_120+188insCCGGGGG
NM_000512.4:c.120+187_120+188insCCGGGGG (GALNS)	NP_000503.1:n.120+187_120+188insCCGGGGG
XM_005256301.2:c.120+187_120+188insCCGGGGG (GALNS)	XP_005256358.1:n.120+187_120+188insCCGGGGG
XM_005256302.1:c.-33+187_-33+188insCCGGGGG (GALNS)	XP_005256359.1:n.-33+187_-33+188insCCGGGGG
XM_011522982.1:c.-33+187_-33+188insCCGGGGG (GALNS)	XP_011521284.1:n.-33+187_-33+188insCCGGGGG
XM_011522984.1:c.-33+187_-33+188insCCGGGGG (GALNS)	XP_011521286.1:n.-33+187_-33+188insCCGGGGG
XR_933884.1:n.9_10insCCGGGGG
NM_001323543.1:c.-312+187_-312+188insCCGGGGG (GALNS)	NP_001310472.1:n.-312+187_-312+188insCCGGGGG
NM_001323544.1:c.-33+187_-33+188insCCGGGGG (GALNS)	NP_001310473.1:n.-33+187_-33+188insCCGGGGG
NR_134671.1:n.27+324_27+325insCCCCCGG (TRAPPC2L)
XM_005256301.3:c.120+187_120+188insCCGGGGG (GALNS)	XP_005256358.1:n.120+187_120+188insCCGGGGG
XM_011522982.2:c.-33+187_-33+188insCCGGGGG (GALNS)	XP_011521284.1:n.-33+187_-33+188insCCGGGGG
XM_017023113.1:c.-312+187_-312+188insCCGGGGG (GALNS)	XP_016878602.1:n.-312+187_-312+188insCCGGGGG
XR_933884.2:n.11_12insCCGGGGG
NM_000512.5:c.120+187_120+188insCCGGGGG (GALNS) MANE Select	NP_000503.1:n.120+187_120+188insCCGGGGG
NM_001323543.2:c.-312+187_-312+188insCCGGGGG (GALNS)	NP_001310472.1:n.-312+187_-312+188insCCGGGGG
NM_001323544.2:c.-33+187_-33+188insCCGGGGG (GALNS)	NP_001310473.1:n.-33+187_-33+188insCCGGGGG
NR_134671.2:n.27+324_27+325insCCCCCGG (TRAPPC2L)