Canonical Allele Identifier: CA725634933

Gene: GALNS

Linked Data

• dbSNP Id: rs1446535349
• MyVariant Identifiers: chr16:g.88892756_88892757del (hg19) ; chr16:g.88826348_88826349del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88826348_88826349del , CM000678.2:g.88826348_88826349del	GRCh38
NC_000016.9:g.88892756_88892757del , CM000678.1:g.88892756_88892757del	GRCh37
NC_000016.8:g.87420257_87420258del	NCBI36
NG_008667.1:g.35618_35619del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1139+353_1139+354del MANE Select	ENSP00000268695.5:n.1139+353_1139+354del
ENST00000268695.9:c.1139+353_1139+354del	ENSP00000268695.5:n.1139+353_1139+354del
ENST00000562593.5:n.4548+353_4548+354del
ENST00000564263.1:n.415+353_415+354del
ENST00000567525.5:c.820+353_820+354del	ENSP00000454484.1:n.820+353_820+354del
ENST00000568613.5:c.1258+353_1258+354del	ENSP00000457921.1:n.1258+353_1258+354del
NM_000512.4:c.1139+353_1139+354del	NP_000503.1:n.1139+353_1139+354del
XM_005256301.2:c.1139+353_1139+354del	XP_005256358.1:n.1139+353_1139+354del
XM_005256302.1:c.1157+353_1157+354del	XP_005256359.1:n.1157+353_1157+354del
XM_011522982.1:c.1157+353_1157+354del	XP_011521284.1:n.1157+353_1157+354del
XM_011522984.1:c.1157+353_1157+354del	XP_011521286.1:n.1157+353_1157+354del
NM_001323543.1:c.584+353_584+354del	NP_001310472.1:n.584+353_584+354del
NM_001323544.1:c.1157+353_1157+354del	NP_001310473.1:n.1157+353_1157+354del
XM_005256301.3:c.1139+353_1139+354del	XP_005256358.1:n.1139+353_1139+354del
XM_011522982.2:c.1157+353_1157+354del	XP_011521284.1:n.1157+353_1157+354del
XM_017023111.2:c.1157+353_1157+354del	XP_016878600.1:n.1157+353_1157+354del
XM_017023112.2:c.1157+353_1157+354del	XP_016878601.1:n.1157+353_1157+354del
XM_017023113.1:c.584+353_584+354del	XP_016878602.1:n.584+353_584+354del
NM_000512.5:c.1139+353_1139+354del MANE Select	NP_000503.1:n.1139+353_1139+354del
NM_001323543.2:c.584+353_584+354del	NP_001310472.1:n.584+353_584+354del
NM_001323544.2:c.1157+353_1157+354del	NP_001310473.1:n.1157+353_1157+354del