Canonical Allele Identifier: CA2600540201

Gene: GALNS

Linked Data

• gnomAD v3: 16-88835989-CGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGA-C
• gnomAD v4: 16-88835989-CGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835996_88836075del , CM000678.2:g.88835996_88836075del	GRCh38
NC_000016.9:g.88902404_88902483del , CM000678.1:g.88902404_88902483del	GRCh37
NC_000016.8:g.87429905_87429984del	NCBI36
NG_008667.1:g.25898_25977del

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.633+132_634-141del MANE Select	ENSP00000268695.5:n.633+132_634-141del
ENST00000268695.9:c.633+132_634-141del	ENSP00000268695.5:n.633+132_634-141del
ENST00000562593.5:n.4042+132_4043-141del
ENST00000562831.1:c.417+132_418-141del	ENSP00000455174.1:n.417+132_418-141del
ENST00000562931.5:n.221+132_222-141del
ENST00000566563.1:n.335+132_336-141del
ENST00000567525.5:c.314+132_315-141del	ENSP00000454484.1:n.314+132_315-141del
ENST00000568613.5:c.752+132_753-141del	ENSP00000457921.1:n.752+132_753-141del
NM_000512.4:c.633+132_634-141del	NP_000503.1:n.633+132_634-141del
XM_005256301.2:c.633+132_634-141del	XP_005256358.1:n.633+132_634-141del
XM_005256302.1:c.651+132_652-141del	XP_005256359.1:n.651+132_652-141del
XM_011522982.1:c.651+132_652-141del	XP_011521284.1:n.651+132_652-141del
XM_011522984.1:c.651+132_652-141del	XP_011521286.1:n.651+132_652-141del
NM_001323543.1:c.78+132_79-141del	NP_001310472.1:n.78+132_79-141del
NM_001323544.1:c.651+132_652-141del	NP_001310473.1:n.651+132_652-141del
XM_005256301.3:c.633+132_634-141del	XP_005256358.1:n.633+132_634-141del
XM_011522982.2:c.651+132_652-141del	XP_011521284.1:n.651+132_652-141del
XM_017023111.2:c.651+132_652-141del	XP_016878600.1:n.651+132_652-141del
XM_017023112.2:c.651+132_652-141del	XP_016878601.1:n.651+132_652-141del
XM_017023113.1:c.78+132_79-141del	XP_016878602.1:n.78+132_79-141del
NM_000512.5:c.633+132_634-141del MANE Select	NP_000503.1:n.633+132_634-141del
NM_001323543.2:c.78+132_79-141del	NP_001310472.1:n.78+132_79-141del
NM_001323544.2:c.651+132_652-141del	NP_001310473.1:n.651+132_652-141del