Canonical Allele Identifier: CA2241325095

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88836097_88836136delinsGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGA , CM000678.2:g.88836097_88836136delinsGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGA	GRCh38
NC_000016.9:g.88902505_88902544delinsGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGA , CM000678.1:g.88902505_88902544delinsGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGA	GRCh37
NC_000016.8:g.87430006_87430045delinsGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGA	NCBI36
NG_008667.1:g.25831_25870delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.633+65_633+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC MANE Select	ENSP00000268695.5:n.633+65_633+104delinsT...
ENST00000268695.9:c.633+65_633+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC	ENSP00000268695.5:n.633+65_633+104delinsT...
ENST00000562593.5:n.4042+65_4042+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC
ENST00000562831.1:c.417+65_417+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC	ENSP00000455174.1:n.417+65_417+104delinsT...
ENST00000562931.5:n.221+65_221+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC
ENST00000566563.1:n.335+65_335+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC
ENST00000567525.5:c.314+65_314+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC	ENSP00000454484.1:n.314+65_314+104delinsT...
ENST00000568613.5:c.752+65_752+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC	ENSP00000457921.1:n.752+65_752+104delinsT...
NM_000512.4:c.633+65_633+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC	NP_000503.1:n.633+65_633+104delinsTCCTGTG...
XM_005256301.2:c.633+65_633+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC	XP_005256358.1:n.633+65_633+104delinsTCCT...
XM_005256302.1:c.651+65_651+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC	XP_005256359.1:n.651+65_651+104delinsTCCT...
XM_011522982.1:c.651+65_651+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC	XP_011521284.1:n.651+65_651+104delinsTCCT...
XM_011522984.1:c.651+65_651+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC	XP_011521286.1:n.651+65_651+104delinsTCCT...
NM_001323543.1:c.78+65_78+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC	NP_001310472.1:n.78+65_78+104delinsTCCTGT...
NM_001323544.1:c.651+65_651+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC	NP_001310473.1:n.651+65_651+104delinsTCCT...
XM_005256301.3:c.633+65_633+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC	XP_005256358.1:n.633+65_633+104delinsTCCT...
XM_011522982.2:c.651+65_651+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC	XP_011521284.1:n.651+65_651+104delinsTCCT...
XM_017023111.2:c.651+65_651+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC	XP_016878600.1:n.651+65_651+104delinsTCCT...
XM_017023112.2:c.651+65_651+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC	XP_016878601.1:n.651+65_651+104delinsTCCT...
XM_017023113.1:c.78+65_78+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC	XP_016878602.1:n.78+65_78+104delinsTCCTGT...
NM_000512.5:c.633+65_633+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC MANE Select	NP_000503.1:n.633+65_633+104delinsTCCTGTG...
NM_001323543.2:c.78+65_78+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC	NP_001310472.1:n.78+65_78+104delinsTCCTGT...
NM_001323544.2:c.651+65_651+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC	NP_001310473.1:n.651+65_651+104delinsTCCT...