Canonical Allele Identifier: CA2241318625

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88826340_88826351delinsCGGCGGACAGGG , CM000678.2:g.88826340_88826351delinsCGGCGGACAGGG	GRCh38
NC_000016.9:g.88892748_88892759delinsCGGCGGACAGGG , CM000678.1:g.88892748_88892759delinsCGGCGGACAGGG	GRCh37
NC_000016.8:g.87420249_87420260delinsCGGCGGACAGGG	NCBI36
NG_008667.1:g.35616_35627delinsCCCTGTCCGCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1139+351_1139+362delinsCCCTGTCCGCCG MANE Select	ENSP00000268695.5:n.1139+351_1139+362delinsCCCTGTCCGCCG
ENST00000268695.9:c.1139+351_1139+362delinsCCCTGTCCGCCG	ENSP00000268695.5:n.1139+351_1139+362delinsCCCTGTCCGCCG
ENST00000562593.5:n.4548+351_4548+362delinsCCCTGTCCGCCG
ENST00000564263.1:n.415+351_415+362delinsCCCTGTCCGCCG
ENST00000567525.5:c.820+351_820+362delinsCCCTGTCCGCCG	ENSP00000454484.1:n.820+351_820+362delinsCCCTGTCCGCCG
ENST00000568613.5:c.1258+351_1258+362delinsCCCTGTCCGCCG	ENSP00000457921.1:n.1258+351_1258+362delinsCCCTGTCCGCCG
NM_000512.4:c.1139+351_1139+362delinsCCCTGTCCGCCG	NP_000503.1:n.1139+351_1139+362delinsCCCTGTCCGCCG
XM_005256301.2:c.1139+351_1139+362delinsCCCTGTCCGCCG	XP_005256358.1:n.1139+351_1139+362delinsCCCTGTCCGCCG
XM_005256302.1:c.1157+351_1157+362delinsCCCTGTCCGCCG	XP_005256359.1:n.1157+351_1157+362delinsCCCTGTCCGCCG
XM_011522982.1:c.1157+351_1157+362delinsCCCTGTCCGCCG	XP_011521284.1:n.1157+351_1157+362delinsCCCTGTCCGCCG
XM_011522984.1:c.1157+351_1157+362delinsCCCTGTCCGCCG	XP_011521286.1:n.1157+351_1157+362delinsCCCTGTCCGCCG
NM_001323543.1:c.584+351_584+362delinsCCCTGTCCGCCG	NP_001310472.1:n.584+351_584+362delinsCCCTGTCCGCCG
NM_001323544.1:c.1157+351_1157+362delinsCCCTGTCCGCCG	NP_001310473.1:n.1157+351_1157+362delinsCCCTGTCCGCCG
XM_005256301.3:c.1139+351_1139+362delinsCCCTGTCCGCCG	XP_005256358.1:n.1139+351_1139+362delinsCCCTGTCCGCCG
XM_011522982.2:c.1157+351_1157+362delinsCCCTGTCCGCCG	XP_011521284.1:n.1157+351_1157+362delinsCCCTGTCCGCCG
XM_017023111.2:c.1157+351_1157+362delinsCCCTGTCCGCCG	XP_016878600.1:n.1157+351_1157+362delinsCCCTGTCCGCCG
XM_017023112.2:c.1157+351_1157+362delinsCCCTGTCCGCCG	XP_016878601.1:n.1157+351_1157+362delinsCCCTGTCCGCCG
XM_017023113.1:c.584+351_584+362delinsCCCTGTCCGCCG	XP_016878602.1:n.584+351_584+362delinsCCCTGTCCGCCG
NM_000512.5:c.1139+351_1139+362delinsCCCTGTCCGCCG MANE Select	NP_000503.1:n.1139+351_1139+362delinsCCCTGTCCGCCG
NM_001323543.2:c.584+351_584+362delinsCCCTGTCCGCCG	NP_001310472.1:n.584+351_584+362delinsCCCTGTCCGCCG
NM_001323544.2:c.1157+351_1157+362delinsCCCTGTCCGCCG	NP_001310473.1:n.1157+351_1157+362delinsCCCTGTCCGCCG