Canonical Allele Identifier: CA2580092234

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88837663_88837701del , CM000678.2:g.88837663_88837701del	GRCh38
NC_000016.9:g.88904071_88904109del , CM000678.1:g.88904071_88904109del	GRCh37
NC_000016.8:g.87431572_87431610del	NCBI36
NG_008667.1:g.24272_24310del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.493_531del MANE Select	ENSP00000268695.5:p.Cys165_Asn177del
ENST00000268695.9:c.493_531del	ENSP00000268695.5:p.Cys165_Asn177del
ENST00000561812.1:n.449_487del
ENST00000562593.5:n.3902_3940del
ENST00000562831.1:c.277_315del	ENSP00000455174.1:p.Cys93_Asn105del
ENST00000562931.5:n.81_119del
ENST00000566563.1:n.195_233del
ENST00000567525.5:c.248-1428_248-1390del	ENSP00000454484.1:n.248-1428_248-1390del
ENST00000568613.5:c.612_650del	ENSP00000457921.1:n.612_650del
NM_000512.4:c.493_531del	NP_000503.1:p.Cys165_Asn177del
XM_005256301.2:c.493_531del	XP_005256358.1:p.Cys165_Asn177del
XM_005256302.1:c.511_549del	XP_005256359.1:p.Cys171_Asn183del
XM_011522982.1:c.511_549del	XP_011521284.1:p.Cys171_Asn183del
XM_011522984.1:c.511_549del	XP_011521286.1:p.Cys171_Asn183del
NM_001323543.1:c.-63_-25del	NP_001310472.1:n.-63_-25del
NM_001323544.1:c.511_549del	NP_001310473.1:p.Cys171_Asn183del
XM_005256301.3:c.493_531del	XP_005256358.1:p.Cys165_Asn177del
XM_011522982.2:c.511_549del	XP_011521284.1:p.Cys171_Asn183del
XM_017023111.2:c.511_549del	XP_016878600.1:p.Cys171_Asn183del
XM_017023112.2:c.511_549del	XP_016878601.1:p.Cys171_Asn183del
XM_017023113.1:c.-63_-25del	XP_016878602.1:n.-63_-25del
NM_000512.5:c.493_531del MANE Select	NP_000503.1:p.Cys165_Asn177del
NM_001323543.2:c.-63_-25del	NP_001310472.1:n.-63_-25del
NM_001323544.2:c.511_549del	NP_001310473.1:p.Cys171_Asn183del