Canonical Allele Identifier: CA2241318636

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88826347_88826349delinsCAG , CM000678.2:g.88826347_88826349delinsCAG	GRCh38
NC_000016.9:g.88892755_88892757delinsCAG , CM000678.1:g.88892755_88892757delinsCAG	GRCh37
NC_000016.8:g.87420256_87420258delinsCAG	NCBI36
NG_008667.1:g.35618_35620delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1139+353_1139+355delinsCTG MANE Select	ENSP00000268695.5:n.1139+353_1139+355delinsCTG
ENST00000268695.9:c.1139+353_1139+355delinsCTG	ENSP00000268695.5:n.1139+353_1139+355delinsCTG
ENST00000562593.5:n.4548+353_4548+355delinsCTG
ENST00000564263.1:n.415+353_415+355delinsCTG
ENST00000567525.5:c.820+353_820+355delinsCTG	ENSP00000454484.1:n.820+353_820+355delinsCTG
ENST00000568613.5:c.1258+353_1258+355delinsCTG	ENSP00000457921.1:n.1258+353_1258+355delinsCTG
NM_000512.4:c.1139+353_1139+355delinsCTG	NP_000503.1:n.1139+353_1139+355delinsCTG
XM_005256301.2:c.1139+353_1139+355delinsCTG	XP_005256358.1:n.1139+353_1139+355delinsCTG
XM_005256302.1:c.1157+353_1157+355delinsCTG	XP_005256359.1:n.1157+353_1157+355delinsCTG
XM_011522982.1:c.1157+353_1157+355delinsCTG	XP_011521284.1:n.1157+353_1157+355delinsCTG
XM_011522984.1:c.1157+353_1157+355delinsCTG	XP_011521286.1:n.1157+353_1157+355delinsCTG
NM_001323543.1:c.584+353_584+355delinsCTG	NP_001310472.1:n.584+353_584+355delinsCTG
NM_001323544.1:c.1157+353_1157+355delinsCTG	NP_001310473.1:n.1157+353_1157+355delinsCTG
XM_005256301.3:c.1139+353_1139+355delinsCTG	XP_005256358.1:n.1139+353_1139+355delinsCTG
XM_011522982.2:c.1157+353_1157+355delinsCTG	XP_011521284.1:n.1157+353_1157+355delinsCTG
XM_017023111.2:c.1157+353_1157+355delinsCTG	XP_016878600.1:n.1157+353_1157+355delinsCTG
XM_017023112.2:c.1157+353_1157+355delinsCTG	XP_016878601.1:n.1157+353_1157+355delinsCTG
XM_017023113.1:c.584+353_584+355delinsCTG	XP_016878602.1:n.584+353_584+355delinsCTG
NM_000512.5:c.1139+353_1139+355delinsCTG MANE Select	NP_000503.1:n.1139+353_1139+355delinsCTG
NM_001323543.2:c.584+353_584+355delinsCTG	NP_001310472.1:n.584+353_584+355delinsCTG
NM_001323544.2:c.1157+353_1157+355delinsCTG	NP_001310473.1:n.1157+353_1157+355delinsCTG