Canonical Allele Identifier: CA725632134

Gene: GALNS TRAPPC2L

Linked Data

• dbSNP Id: rs1209201803
• gnomAD v3: 16-88856844-GCCA-G
• gnomAD v4: 16-88856844-GCCA-G
• MyVariant Identifiers: chr16:g.88923253_88923255del (hg19) ; chr16:g.88856845_88856847del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856850_88856852del , CM000678.2:g.88856850_88856852del	GRCh38
NC_000016.9:g.88923258_88923260del , CM000678.1:g.88923258_88923260del	GRCh37
NC_000016.8:g.87450759_87450761del	NCBI36
NG_008667.1:g.5120_5122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.31_33del (GALNS) MANE Select	ENSP00000268695.5:p.Trp11del
ENST00000268695.9:c.31_33del (GALNS)	ENSP00000268695.5:p.Trp11del
ENST00000564365.5:c.-398+604_-398+606del (TRAPPC2L)	ENSP00000455447.1:n.-398+604_-398+606del
ENST00000568311.1:c.31_33del (GALNS)	ENSP00000455006.1:p.Trp11del
ENST00000569433.1:c.31_33del (GALNS)	ENSP00000456884.1:p.Trp11del
NM_000512.4:c.31_33del (GALNS)	NP_000503.1:p.Trp11del
XM_005256301.2:c.31_33del (GALNS)	XP_005256358.1:p.Trp11del
NM_001323543.1:c.-401_-399del (GALNS)	NP_001310472.1:n.-401_-399del
NM_001323544.1:c.-122_-120del (GALNS)	NP_001310473.1:n.-122_-120del
NR_134671.1:n.27+604_27+606del (TRAPPC2L)
XM_005256301.3:c.31_33del (GALNS)	XP_005256358.1:p.Trp11del
XM_017023113.1:c.-401_-399del (GALNS)	XP_016878602.1:n.-401_-399del
NM_000512.5:c.31_33del (GALNS) MANE Select	NP_000503.1:p.Trp11del
NM_001323543.2:c.-401_-399del (GALNS)	NP_001310472.1:n.-401_-399del
NM_001323544.2:c.-122_-120del (GALNS)	NP_001310473.1:n.-122_-120del
NR_134671.2:n.27+604_27+606del (TRAPPC2L)