Canonical Allele Identifier: CA624207032

Gene: GALNS

Linked Data

• gnomAD v2: 16-88902422-GGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCATGCGTCCCACA-G
• gnomAD v3: 16-88836014-GGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCATGCGTCCCACA-G
• gnomAD v4: 16-88836014-GGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCATGCGTCCCACA-G
• MyVariant Identifiers: chr16:g.88902423_88902581del (hg19) ; chr16:g.88836015_88836173del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88836037_88836195del , CM000678.2:g.88836037_88836195del	GRCh38
NC_000016.9:g.88902445_88902603del , CM000678.1:g.88902445_88902603del	GRCh37
NC_000016.8:g.87429946_87430104del	NCBI36
NG_008667.1:g.25794_25952del

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.633+28_634-166del MANE Select	ENSP00000268695.5:n.633+28_634-166del
ENST00000268695.9:c.633+28_634-166del	ENSP00000268695.5:n.633+28_634-166del
ENST00000562593.5:n.4042+28_4043-166del
ENST00000562831.1:c.417+28_418-166del	ENSP00000455174.1:n.417+28_418-166del
ENST00000562931.5:n.221+28_222-166del
ENST00000566563.1:n.335+28_336-166del
ENST00000567525.5:c.314+28_315-166del	ENSP00000454484.1:n.314+28_315-166del
ENST00000568613.5:c.752+28_753-166del	ENSP00000457921.1:n.752+28_753-166del
NM_000512.4:c.633+28_634-166del	NP_000503.1:n.633+28_634-166del
XM_005256301.2:c.633+28_634-166del	XP_005256358.1:n.633+28_634-166del
XM_005256302.1:c.651+28_652-166del	XP_005256359.1:n.651+28_652-166del
XM_011522982.1:c.651+28_652-166del	XP_011521284.1:n.651+28_652-166del
XM_011522984.1:c.651+28_652-166del	XP_011521286.1:n.651+28_652-166del
NM_001323543.1:c.78+28_79-166del	NP_001310472.1:n.78+28_79-166del
NM_001323544.1:c.651+28_652-166del	NP_001310473.1:n.651+28_652-166del
XM_005256301.3:c.633+28_634-166del	XP_005256358.1:n.633+28_634-166del
XM_011522982.2:c.651+28_652-166del	XP_011521284.1:n.651+28_652-166del
XM_017023111.2:c.651+28_652-166del	XP_016878600.1:n.651+28_652-166del
XM_017023112.2:c.651+28_652-166del	XP_016878601.1:n.651+28_652-166del
XM_017023113.1:c.78+28_79-166del	XP_016878602.1:n.78+28_79-166del
NM_000512.5:c.633+28_634-166del MANE Select	NP_000503.1:n.633+28_634-166del
NM_001323543.2:c.78+28_79-166del	NP_001310472.1:n.78+28_79-166del
NM_001323544.2:c.651+28_652-166del	NP_001310473.1:n.651+28_652-166del