Canonical Allele Identifier: CA2241319106

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88827097_88827098delinsGA , CM000678.2:g.88827097_88827098delinsGA	GRCh38
NC_000016.9:g.88893505_88893506delinsGA , CM000678.1:g.88893505_88893506delinsGA	GRCh37
NC_000016.8:g.87421006_87421007delinsGA	NCBI36
NG_008667.1:g.34869_34870delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1003-260_1003-259delinsTC MANE Select	ENSP00000268695.5:n.1003-260_1003-259delinsTC
ENST00000268695.9:c.1003-260_1003-259delinsTC	ENSP00000268695.5:n.1003-260_1003-259delinsTC
ENST00000562593.5:n.4412-260_4412-259delinsTC
ENST00000564263.1:n.19_20delinsTC
ENST00000567525.5:c.684-260_684-259delinsTC	ENSP00000454484.1:n.684-260_684-259delinsTC
ENST00000568613.5:c.1122-260_1122-259delinsTC	ENSP00000457921.1:n.1122-260_1122-259delinsTC
NM_000512.4:c.1003-260_1003-259delinsTC	NP_000503.1:n.1003-260_1003-259delinsTC
XM_005256301.2:c.1003-260_1003-259delinsTC	XP_005256358.1:n.1003-260_1003-259delinsTC
XM_005256302.1:c.1021-260_1021-259delinsTC	XP_005256359.1:n.1021-260_1021-259delinsTC
XM_011522982.1:c.1021-260_1021-259delinsTC	XP_011521284.1:n.1021-260_1021-259delinsTC
XM_011522984.1:c.1021-260_1021-259delinsTC	XP_011521286.1:n.1021-260_1021-259delinsTC
NM_001323543.1:c.448-260_448-259delinsTC	NP_001310472.1:n.448-260_448-259delinsTC
NM_001323544.1:c.1021-260_1021-259delinsTC	NP_001310473.1:n.1021-260_1021-259delinsTC
XM_005256301.3:c.1003-260_1003-259delinsTC	XP_005256358.1:n.1003-260_1003-259delinsTC
XM_011522982.2:c.1021-260_1021-259delinsTC	XP_011521284.1:n.1021-260_1021-259delinsTC
XM_017023111.2:c.1021-260_1021-259delinsTC	XP_016878600.1:n.1021-260_1021-259delinsTC
XM_017023112.2:c.1021-260_1021-259delinsTC	XP_016878601.1:n.1021-260_1021-259delinsTC
XM_017023113.1:c.448-260_448-259delinsTC	XP_016878602.1:n.448-260_448-259delinsTC
NM_000512.5:c.1003-260_1003-259delinsTC MANE Select	NP_000503.1:n.1003-260_1003-259delinsTC
NM_001323543.2:c.448-260_448-259delinsTC	NP_001310472.1:n.448-260_448-259delinsTC
NM_001323544.2:c.1021-260_1021-259delinsTC	NP_001310473.1:n.1021-260_1021-259delinsTC