Canonical Allele Identifier: CA2241325110

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88836115_88836155delinsTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCC , CM000678.2:g.88836115_88836155delinsTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCC	GRCh38
NC_000016.9:g.88902523_88902563delinsTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCC , CM000678.1:g.88902523_88902563delinsTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCC	GRCh37
NC_000016.8:g.87430024_87430064delinsTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCC	NCBI36
NG_008667.1:g.25812_25852delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.633+46_633+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA MANE Select	ENSP00000268695.5:n.633+46_633+86delinsGG...
ENST00000268695.9:c.633+46_633+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA	ENSP00000268695.5:n.633+46_633+86delinsGG...
ENST00000562593.5:n.4042+46_4042+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA
ENST00000562831.1:c.417+46_417+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA	ENSP00000455174.1:n.417+46_417+86delinsGG...
ENST00000562931.5:n.221+46_221+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA
ENST00000566563.1:n.335+46_335+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA
ENST00000567525.5:c.314+46_314+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA	ENSP00000454484.1:n.314+46_314+86delinsGG...
ENST00000568613.5:c.752+46_752+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA	ENSP00000457921.1:n.752+46_752+86delinsGG...
NM_000512.4:c.633+46_633+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA	NP_000503.1:n.633+46_633+86delinsGGGGACCG...
XM_005256301.2:c.633+46_633+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA	XP_005256358.1:n.633+46_633+86delinsGGGGA...
XM_005256302.1:c.651+46_651+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA	XP_005256359.1:n.651+46_651+86delinsGGGGA...
XM_011522982.1:c.651+46_651+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA	XP_011521284.1:n.651+46_651+86delinsGGGGA...
XM_011522984.1:c.651+46_651+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA	XP_011521286.1:n.651+46_651+86delinsGGGGA...
NM_001323543.1:c.78+46_78+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA	NP_001310472.1:n.78+46_78+86delinsGGGGACC...
NM_001323544.1:c.651+46_651+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA	NP_001310473.1:n.651+46_651+86delinsGGGGA...
XM_005256301.3:c.633+46_633+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA	XP_005256358.1:n.633+46_633+86delinsGGGGA...
XM_011522982.2:c.651+46_651+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA	XP_011521284.1:n.651+46_651+86delinsGGGGA...
XM_017023111.2:c.651+46_651+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA	XP_016878600.1:n.651+46_651+86delinsGGGGA...
XM_017023112.2:c.651+46_651+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA	XP_016878601.1:n.651+46_651+86delinsGGGGA...
XM_017023113.1:c.78+46_78+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA	XP_016878602.1:n.78+46_78+86delinsGGGGACC...
NM_000512.5:c.633+46_633+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA MANE Select	NP_000503.1:n.633+46_633+86delinsGGGGACCG...
NM_001323543.2:c.78+46_78+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA	NP_001310472.1:n.78+46_78+86delinsGGGGACC...
NM_001323544.2:c.651+46_651+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA	NP_001310473.1:n.651+46_651+86delinsGGGGA...