Canonical Allele Identifier: CA2241325049

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88836044_88836163delinsCGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCAT , CM000678.2:g.88836044_88836163delinsCGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCAT	GRCh38
NC_000016.9:g.88902452_88902571delinsCGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCAT , CM000678.1:g.88902452_88902571delinsCGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCAT	GRCh37
NC_000016.8:g.87429953_87430072delinsCGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCAT	NCBI36
NG_008667.1:g.25804_25923delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.633+38_633+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG MANE Select	ENSP00000268695.5:n.633+38_633+157delinsA...
ENST00000268695.9:c.633+38_633+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG	ENSP00000268695.5:n.633+38_633+157delinsA...
ENST00000562593.5:n.4042+38_4042+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG
ENST00000562831.1:c.417+38_417+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG	ENSP00000455174.1:n.417+38_417+157delinsA...
ENST00000562931.5:n.221+38_221+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG
ENST00000566563.1:n.335+38_335+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG
ENST00000567525.5:c.314+38_314+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG	ENSP00000454484.1:n.314+38_314+157delinsA...
ENST00000568613.5:c.752+38_752+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG	ENSP00000457921.1:n.752+38_752+157delinsA...
NM_000512.4:c.633+38_633+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG	NP_000503.1:n.633+38_633+157delinsATGGGGA...
XM_005256301.2:c.633+38_633+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG	XP_005256358.1:n.633+38_633+157delinsATGG...
XM_005256302.1:c.651+38_651+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG	XP_005256359.1:n.651+38_651+157delinsATGG...
XM_011522982.1:c.651+38_651+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG	XP_011521284.1:n.651+38_651+157delinsATGG...
XM_011522984.1:c.651+38_651+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG	XP_011521286.1:n.651+38_651+157delinsATGG...
NM_001323543.1:c.78+38_78+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG	NP_001310472.1:n.78+38_78+157delinsATGGGG...
NM_001323544.1:c.651+38_651+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG	NP_001310473.1:n.651+38_651+157delinsATGG...
XM_005256301.3:c.633+38_633+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG	XP_005256358.1:n.633+38_633+157delinsATGG...
XM_011522982.2:c.651+38_651+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG	XP_011521284.1:n.651+38_651+157delinsATGG...
XM_017023111.2:c.651+38_651+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG	XP_016878600.1:n.651+38_651+157delinsATGG...
XM_017023112.2:c.651+38_651+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG	XP_016878601.1:n.651+38_651+157delinsATGG...
XM_017023113.1:c.78+38_78+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG	XP_016878602.1:n.78+38_78+157delinsATGGGG...
NM_000512.5:c.633+38_633+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG MANE Select	NP_000503.1:n.633+38_633+157delinsATGGGGA...
NM_001323543.2:c.78+38_78+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG	NP_001310472.1:n.78+38_78+157delinsATGGGG...
NM_001323544.2:c.651+38_651+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG	NP_001310473.1:n.651+38_651+157delinsATGG...