Canonical Allele Identifier: CA2532596510

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88836038_88836039insAGATCTGGGTGAGGTTGGCTTC , CM000678.2:g.88836038_88836039insAGATCTGGGTGAGGTTGGCTTC	GRCh38
NC_000016.9:g.88902446_88902447insAGATCTGGGTGAGGTTGGCTTC , CM000678.1:g.88902446_88902447insAGATCTGGGTGAGGTTGGCTTC	GRCh37
NC_000016.8:g.87429947_87429948insAGATCTGGGTGAGGTTGGCTTC	NCBI36
NG_008667.1:g.25928_25929insGAAGCCAACCTCACCCAGATCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.633+162_633+163insGAAGCCAACCTCACCCAGATCT MANE Select	ENSP00000268695.5:n.633+162_633+163insGAAGCCAACCTCACCCAGATCT
ENST00000268695.9:c.633+162_633+163insGAAGCCAACCTCACCCAGATCT	ENSP00000268695.5:n.633+162_633+163insGAAGCCAACCTCACCCAGATCT
ENST00000562593.5:n.4042+162_4042+163insGAAGCCAACCTCACCCAGATCT
ENST00000562831.1:c.417+162_417+163insGAAGCCAACCTCACCCAGATCT	ENSP00000455174.1:n.417+162_417+163insGAAGCCAACCTCACCCAGATCT
ENST00000562931.5:n.221+162_221+163insGAAGCCAACCTCACCCAGATCT
ENST00000566563.1:n.335+162_335+163insGAAGCCAACCTCACCCAGATCT
ENST00000567525.5:c.314+162_314+163insGAAGCCAACCTCACCCAGATCT	ENSP00000454484.1:n.314+162_314+163insGAAGCCAACCTCACCCAGATCT
ENST00000568613.5:c.752+162_752+163insGAAGCCAACCTCACCCAGATCT	ENSP00000457921.1:n.752+162_752+163insGAAGCCAACCTCACCCAGATCT
NM_000512.4:c.633+162_633+163insGAAGCCAACCTCACCCAGATCT	NP_000503.1:n.633+162_633+163insGAAGCCAACCTCACCCAGATCT
XM_005256301.2:c.633+162_633+163insGAAGCCAACCTCACCCAGATCT	XP_005256358.1:n.633+162_633+163insGAAGCCAACCTCACCCAGATCT
XM_005256302.1:c.651+162_651+163insGAAGCCAACCTCACCCAGATCT	XP_005256359.1:n.651+162_651+163insGAAGCCAACCTCACCCAGATCT
XM_011522982.1:c.651+162_651+163insGAAGCCAACCTCACCCAGATCT	XP_011521284.1:n.651+162_651+163insGAAGCCAACCTCACCCAGATCT
XM_011522984.1:c.651+162_651+163insGAAGCCAACCTCACCCAGATCT	XP_011521286.1:n.651+162_651+163insGAAGCCAACCTCACCCAGATCT
NM_001323543.1:c.78+162_78+163insGAAGCCAACCTCACCCAGATCT	NP_001310472.1:n.78+162_78+163insGAAGCCAACCTCACCCAGATCT
NM_001323544.1:c.651+162_651+163insGAAGCCAACCTCACCCAGATCT	NP_001310473.1:n.651+162_651+163insGAAGCCAACCTCACCCAGATCT
XM_005256301.3:c.633+162_633+163insGAAGCCAACCTCACCCAGATCT	XP_005256358.1:n.633+162_633+163insGAAGCCAACCTCACCCAGATCT
XM_011522982.2:c.651+162_651+163insGAAGCCAACCTCACCCAGATCT	XP_011521284.1:n.651+162_651+163insGAAGCCAACCTCACCCAGATCT
XM_017023111.2:c.651+162_651+163insGAAGCCAACCTCACCCAGATCT	XP_016878600.1:n.651+162_651+163insGAAGCCAACCTCACCCAGATCT
XM_017023112.2:c.651+162_651+163insGAAGCCAACCTCACCCAGATCT	XP_016878601.1:n.651+162_651+163insGAAGCCAACCTCACCCAGATCT
XM_017023113.1:c.78+162_78+163insGAAGCCAACCTCACCCAGATCT	XP_016878602.1:n.78+162_78+163insGAAGCCAACCTCACCCAGATCT
NM_000512.5:c.633+162_633+163insGAAGCCAACCTCACCCAGATCT MANE Select	NP_000503.1:n.633+162_633+163insGAAGCCAACCTCACCCAGATCT
NM_001323543.2:c.78+162_78+163insGAAGCCAACCTCACCCAGATCT	NP_001310472.1:n.78+162_78+163insGAAGCCAACCTCACCCAGATCT
NM_001323544.2:c.651+162_651+163insGAAGCCAACCTCACCCAGATCT	NP_001310473.1:n.651+162_651+163insGAAGCCAACCTCACCCAGATCT