Canonical Allele Identifier: CA2808066928

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835978_88835979insGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACAGGGC , CM000678.2:g.88835978_88835979insGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACAGGGC	GRCh38
NC_000016.9:g.88902386_88902387insGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACAGGGC , CM000678.1:g.88902386_88902387insGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACAGGGC	GRCh37
NC_000016.8:g.87429887_87429888insGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACAGGGC	NCBI36
NG_008667.1:g.25992_25993insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.634-126_634-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC MANE Select	ENSP00000268695.5:n.634-126_634-125insTGTGGGACGCGTGGGGACGGGGA...
ENST00000268695.9:c.634-126_634-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC	ENSP00000268695.5:n.634-126_634-125insTGTGGGACGCGTGGGGACGGGGA...
ENST00000562593.5:n.4043-126_4043-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC
ENST00000562831.1:c.418-126_418-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC	ENSP00000455174.1:n.418-126_418-125insTGTGGGACGCGTGGGGACGGGGA...
ENST00000562931.5:n.222-126_222-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC
ENST00000566563.1:n.336-126_336-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC
ENST00000567525.5:c.315-126_315-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC	ENSP00000454484.1:n.315-126_315-125insTGTGGGACGCGTGGGGACGGGGA...
ENST00000568613.5:c.753-126_753-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC	ENSP00000457921.1:n.753-126_753-125insTGTGGGACGCGTGGGGACGGGGA...
NM_000512.4:c.634-126_634-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC	NP_000503.1:n.634-126_634-125insTGTGGGACGCGTGGGGACGGGGACCGCAC...
XM_005256301.2:c.634-126_634-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC	XP_005256358.1:n.634-126_634-125insTGTGGGACGCGTGGGGACGGGGACCG...
XM_005256302.1:c.652-126_652-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC	XP_005256359.1:n.652-126_652-125insTGTGGGACGCGTGGGGACGGGGACCG...
XM_011522982.1:c.652-126_652-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC	XP_011521284.1:n.652-126_652-125insTGTGGGACGCGTGGGGACGGGGACCG...
XM_011522984.1:c.652-126_652-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC	XP_011521286.1:n.652-126_652-125insTGTGGGACGCGTGGGGACGGGGACCG...
NM_001323543.1:c.79-126_79-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC	NP_001310472.1:n.79-126_79-125insTGTGGGACGCGTGGGGACGGGGACCGCA...
NM_001323544.1:c.652-126_652-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC	NP_001310473.1:n.652-126_652-125insTGTGGGACGCGTGGGGACGGGGACCG...
XM_005256301.3:c.634-126_634-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC	XP_005256358.1:n.634-126_634-125insTGTGGGACGCGTGGGGACGGGGACCG...
XM_011522982.2:c.652-126_652-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC	XP_011521284.1:n.652-126_652-125insTGTGGGACGCGTGGGGACGGGGACCG...
XM_017023111.2:c.652-126_652-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC	XP_016878600.1:n.652-126_652-125insTGTGGGACGCGTGGGGACGGGGACCG...
XM_017023112.2:c.652-126_652-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC	XP_016878601.1:n.652-126_652-125insTGTGGGACGCGTGGGGACGGGGACCG...
XM_017023113.1:c.79-126_79-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC	XP_016878602.1:n.79-126_79-125insTGTGGGACGCGTGGGGACGGGGACCGCA...
NM_000512.5:c.634-126_634-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC MANE Select	NP_000503.1:n.634-126_634-125insTGTGGGACGCGTGGGGACGGGGACCGCAC...
NM_001323543.2:c.79-126_79-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC	NP_001310472.1:n.79-126_79-125insTGTGGGACGCGTGGGGACGGGGACCGCA...
NM_001323544.2:c.652-126_652-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC	NP_001310473.1:n.652-126_652-125insTGTGGGACGCGTGGGGACGGGGACCG...