Canonical Allele Identifier: CA2241318574

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88826291_88826340delinsGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGC , CM000678.2:g.88826291_88826340delinsGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGC	GRCh38
NC_000016.9:g.88892699_88892748delinsGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGC , CM000678.1:g.88892699_88892748delinsGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGC	GRCh37
NC_000016.8:g.87420200_87420249delinsGGGCGGACAGGGGCGGCGTGTGTCTGGGTACAGGCAGGGAACAGGGGTGC	NCBI36
NG_008667.1:g.35627_35676delinsGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.1139+362_1139+411delinsGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCC MANE Select	ENSP00000268695.5:n.1139+362_1139+411delinsGCACCCCTGTTCCCTGCC...
ENST00000268695.9:c.1139+362_1139+411delinsGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCC	ENSP00000268695.5:n.1139+362_1139+411delinsGCACCCCTGTTCCCTGCC...
ENST00000562593.5:n.4548+362_4548+411delinsGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCC
ENST00000564263.1:n.415+362_415+411delinsGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCC
ENST00000567525.5:c.820+362_820+411delinsGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCC	ENSP00000454484.1:n.820+362_820+411delinsGCACCCCTGTTCCCTGCCTG...
ENST00000568613.5:c.1258+362_1258+411delinsGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCC	ENSP00000457921.1:n.1258+362_1258+411delinsGCACCCCTGTTCCCTGCC...
NM_000512.4:c.1139+362_1139+411delinsGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCC	NP_000503.1:n.1139+362_1139+411delinsGCACCCCTGTTCCCTGCCTGTACC...
XM_005256301.2:c.1139+362_1139+411delinsGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCC	XP_005256358.1:n.1139+362_1139+411delinsGCACCCCTGTTCCCTGCCTGT...
XM_005256302.1:c.1157+362_1157+411delinsGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCC	XP_005256359.1:n.1157+362_1157+411delinsGCACCCCTGTTCCCTGCCTGT...
XM_011522982.1:c.1157+362_1157+411delinsGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCC	XP_011521284.1:n.1157+362_1157+411delinsGCACCCCTGTTCCCTGCCTGT...
XM_011522984.1:c.1157+362_1157+411delinsGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCC	XP_011521286.1:n.1157+362_1157+411delinsGCACCCCTGTTCCCTGCCTGT...
NM_001323543.1:c.584+362_584+411delinsGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCC	NP_001310472.1:n.584+362_584+411delinsGCACCCCTGTTCCCTGCCTGTAC...
NM_001323544.1:c.1157+362_1157+411delinsGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCC	NP_001310473.1:n.1157+362_1157+411delinsGCACCCCTGTTCCCTGCCTGT...
XM_005256301.3:c.1139+362_1139+411delinsGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCC	XP_005256358.1:n.1139+362_1139+411delinsGCACCCCTGTTCCCTGCCTGT...
XM_011522982.2:c.1157+362_1157+411delinsGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCC	XP_011521284.1:n.1157+362_1157+411delinsGCACCCCTGTTCCCTGCCTGT...
XM_017023111.2:c.1157+362_1157+411delinsGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCC	XP_016878600.1:n.1157+362_1157+411delinsGCACCCCTGTTCCCTGCCTGT...
XM_017023112.2:c.1157+362_1157+411delinsGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCC	XP_016878601.1:n.1157+362_1157+411delinsGCACCCCTGTTCCCTGCCTGT...
XM_017023113.1:c.584+362_584+411delinsGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCC	XP_016878602.1:n.584+362_584+411delinsGCACCCCTGTTCCCTGCCTGTAC...
NM_000512.5:c.1139+362_1139+411delinsGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCC MANE Select	NP_000503.1:n.1139+362_1139+411delinsGCACCCCTGTTCCCTGCCTGTACC...
NM_001323543.2:c.584+362_584+411delinsGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCC	NP_001310472.1:n.584+362_584+411delinsGCACCCCTGTTCCCTGCCTGTAC...
NM_001323544.2:c.1157+362_1157+411delinsGCACCCCTGTTCCCTGCCTGTACCCAGACACACGCCGCCCCTGTCCGCCC	NP_001310473.1:n.1157+362_1157+411delinsGCACCCCTGTTCCCTGCCTGT...