Canonical Allele Identifier: CA2241338150

Gene: GALNS TRAPPC2L

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88856840_88856843delinsAGCT , CM000678.2:g.88856840_88856843delinsAGCT	GRCh38
NC_000016.9:g.88923248_88923251delinsAGCT , CM000678.1:g.88923248_88923251delinsAGCT	GRCh37
NC_000016.8:g.87450749_87450752delinsAGCT	NCBI36
NG_008667.1:g.5124_5127delinsAGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.35_38delinsAGCT (GALNS) MANE Select	ENSP00000268695.5:p.Gln12=
ENST00000268695.9:c.35_38delinsAGCT (GALNS)	ENSP00000268695.5:p.Gln12=
ENST00000564365.5:c.-398+594_-398+597delinsAGCT (TRAPPC2L)	ENSP00000455447.1:n.-398+594_-398+597delinsAGCT
ENST00000568311.1:c.35_38delinsAGCT (GALNS)	ENSP00000455006.1:p.Gln12=
ENST00000569433.1:c.35_38delinsAGCT (GALNS)	ENSP00000456884.1:p.Gln12=
NM_000512.4:c.35_38delinsAGCT (GALNS)	NP_000503.1:p.Gln12=
XM_005256301.2:c.35_38delinsAGCT (GALNS)	XP_005256358.1:p.Gln12=
NM_001323543.1:c.-397_-394delinsAGCT (GALNS)	NP_001310472.1:n.-397_-394delinsAGCT
NM_001323544.1:c.-118_-115delinsAGCT (GALNS)	NP_001310473.1:n.-118_-115delinsAGCT
NR_134671.1:n.27+594_27+597delinsAGCT (TRAPPC2L)
XM_005256301.3:c.35_38delinsAGCT (GALNS)	XP_005256358.1:p.Gln12=
XM_017023113.1:c.-397_-394delinsAGCT (GALNS)	XP_016878602.1:n.-397_-394delinsAGCT
NM_000512.5:c.35_38delinsAGCT (GALNS) MANE Select	NP_000503.1:p.Gln12=
NM_001323543.2:c.-397_-394delinsAGCT (GALNS)	NP_001310472.1:n.-397_-394delinsAGCT
NM_001323544.2:c.-118_-115delinsAGCT (GALNS)	NP_001310473.1:n.-118_-115delinsAGCT
NR_134671.2:n.27+594_27+597delinsAGCT (TRAPPC2L)