Canonical Allele Identifier: CA980349325

Gene: GALNS

Linked Data

• gnomAD v3: 16-88836023-ATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGT-A
• gnomAD v4: 16-88836023-ATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88836044_88836162del , CM000678.2:g.88836044_88836162del	GRCh38
NC_000016.9:g.88902452_88902570del , CM000678.1:g.88902452_88902570del	GRCh37
NC_000016.8:g.87429953_87430071del	NCBI36
NG_008667.1:g.25825_25943del

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.633+59_634-175del MANE Select	ENSP00000268695.5:n.633+59_634-175del
ENST00000268695.9:c.633+59_634-175del	ENSP00000268695.5:n.633+59_634-175del
ENST00000562593.5:n.4042+59_4043-175del
ENST00000562831.1:c.417+59_418-175del	ENSP00000455174.1:n.417+59_418-175del
ENST00000562931.5:n.221+59_222-175del
ENST00000566563.1:n.335+59_336-175del
ENST00000567525.5:c.314+59_315-175del	ENSP00000454484.1:n.314+59_315-175del
ENST00000568613.5:c.752+59_753-175del	ENSP00000457921.1:n.752+59_753-175del
NM_000512.4:c.633+59_634-175del	NP_000503.1:n.633+59_634-175del
XM_005256301.2:c.633+59_634-175del	XP_005256358.1:n.633+59_634-175del
XM_005256302.1:c.651+59_652-175del	XP_005256359.1:n.651+59_652-175del
XM_011522982.1:c.651+59_652-175del	XP_011521284.1:n.651+59_652-175del
XM_011522984.1:c.651+59_652-175del	XP_011521286.1:n.651+59_652-175del
NM_001323543.1:c.78+59_79-175del	NP_001310472.1:n.78+59_79-175del
NM_001323544.1:c.651+59_652-175del	NP_001310473.1:n.651+59_652-175del
XM_005256301.3:c.633+59_634-175del	XP_005256358.1:n.633+59_634-175del
XM_011522982.2:c.651+59_652-175del	XP_011521284.1:n.651+59_652-175del
XM_017023111.2:c.651+59_652-175del	XP_016878600.1:n.651+59_652-175del
XM_017023112.2:c.651+59_652-175del	XP_016878601.1:n.651+59_652-175del
XM_017023113.1:c.78+59_79-175del	XP_016878602.1:n.78+59_79-175del
NM_000512.5:c.633+59_634-175del MANE Select	NP_000503.1:n.633+59_634-175del
NM_001323543.2:c.78+59_79-175del	NP_001310472.1:n.78+59_79-175del
NM_001323544.2:c.651+59_652-175del	NP_001310473.1:n.651+59_652-175del