Canonical Allele Identifier: CA980349355

Gene: GALNS

Linked Data

• dbSNP Id: rs1912100613
• gnomAD v3: 16-88836044-CGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCAT-C
• gnomAD v4: 16-88836044-CGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88836054_88836172del , CM000678.2:g.88836054_88836172del	GRCh38
NC_000016.9:g.88902462_88902580del , CM000678.1:g.88902462_88902580del	GRCh37
NC_000016.8:g.87429963_87430081del	NCBI36
NG_008667.1:g.25804_25922del

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.633+38_633+156del MANE Select	ENSP00000268695.5:n.633+38_633+156del
ENST00000268695.9:c.633+38_633+156del	ENSP00000268695.5:n.633+38_633+156del
ENST00000562593.5:n.4042+38_4042+156del
ENST00000562831.1:c.417+38_417+156del	ENSP00000455174.1:n.417+38_417+156del
ENST00000562931.5:n.221+38_221+156del
ENST00000566563.1:n.335+38_335+156del
ENST00000567525.5:c.314+38_314+156del	ENSP00000454484.1:n.314+38_314+156del
ENST00000568613.5:c.752+38_752+156del	ENSP00000457921.1:n.752+38_752+156del
NM_000512.4:c.633+38_633+156del	NP_000503.1:n.633+38_633+156del
XM_005256301.2:c.633+38_633+156del	XP_005256358.1:n.633+38_633+156del
XM_005256302.1:c.651+38_651+156del	XP_005256359.1:n.651+38_651+156del
XM_011522982.1:c.651+38_651+156del	XP_011521284.1:n.651+38_651+156del
XM_011522984.1:c.651+38_651+156del	XP_011521286.1:n.651+38_651+156del
NM_001323543.1:c.78+38_78+156del	NP_001310472.1:n.78+38_78+156del
NM_001323544.1:c.651+38_651+156del	NP_001310473.1:n.651+38_651+156del
XM_005256301.3:c.633+38_633+156del	XP_005256358.1:n.633+38_633+156del
XM_011522982.2:c.651+38_651+156del	XP_011521284.1:n.651+38_651+156del
XM_017023111.2:c.651+38_651+156del	XP_016878600.1:n.651+38_651+156del
XM_017023112.2:c.651+38_651+156del	XP_016878601.1:n.651+38_651+156del
XM_017023113.1:c.78+38_78+156del	XP_016878602.1:n.78+38_78+156del
NM_000512.5:c.633+38_633+156del MANE Select	NP_000503.1:n.633+38_633+156del
NM_001323543.2:c.78+38_78+156del	NP_001310472.1:n.78+38_78+156del
NM_001323544.2:c.651+38_651+156del	NP_001310473.1:n.651+38_651+156del