Canonical Allele Identifier: CA572784267

Gene: C1GALT1

Linked Data

• dbSNP Id: rs1347634265
• gnomAD v2: 7-7273566-TG-T
• gnomAD v3: 7-7233935-TG-T
• gnomAD v4: 7-7233935-TG-T
• MyVariant Identifiers: chr7:g.7273567del (hg19) ; chr7:g.7233936del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7233937del , CM000669.2:g.7233937del	GRCh38
NC_000007.13:g.7273568del , CM000669.1:g.7273568del	GRCh37
NC_000007.12:g.7240093del	NCBI36
NG_027732.1:g.56323del

Transcript Alleles

HGVS	Amino-acid change
ENST00000436587.7:c.-17-366del MANE Select	ENSP00000389176.2:n.-17-366del
ENST00000419721.5:c.-17-366del	ENSP00000415400.1:n.-17-366del
ENST00000429911.5:c.-17-366del	ENSP00000407666.1:n.-17-366del
ENST00000436587.6:c.-17-366del	ENSP00000389176.2:n.-17-366del
ENST00000476068.1:n.192-366del
NM_020156.4:c.-17-366del	NP_064541.1:n.-17-366del
XM_005249812.1:c.8-366del	XP_005249869.1:n.8-366del
XM_011515453.1:c.-17-366del	XP_011513755.1:n.-17-366del
XM_011515454.1:c.-17-366del	XP_011513756.1:n.-17-366del
XM_011515455.1:c.-17-366del	XP_011513757.1:n.-17-366del
XM_011515456.1:c.-17-366del	XP_011513758.1:n.-17-366del
XM_011515453.2:c.-17-366del	XP_011513755.1:n.-17-366del
XM_011515455.2:c.-17-366del	XP_011513757.1:n.-17-366del
XM_011515456.2:c.-17-366del	XP_011513758.1:n.-17-366del
XM_017012442.1:c.-17-366del	XP_016867931.1:n.-17-366del
XM_017012444.1:c.-17-366del	XP_016867933.1:n.-17-366del
XM_017012445.1:c.-17-366del	XP_016867934.1:n.-17-366del
XM_017012446.1:c.-17-366del	XP_016867935.1:n.-17-366del
XM_017012447.1:c.-17-366del	XP_016867936.1:n.-17-366del
XM_017012448.1:c.-17-366del	XP_016867937.1:n.-17-366del
XM_024446838.1:c.-17-366del	XP_024302606.1:n.-17-366del
NM_020156.5:c.-17-366del MANE Select	NP_064541.1:n.-17-366del