Canonical Allele Identifier: CA572783377

Gene: C1GALT1

Linked Data

• dbSNP Id: rs1554296220
• gnomAD v2: 7-7268352-A-ATACTC
• gnomAD v3: 7-7228721-A-ATACTC
• gnomAD v4: 7-7228721-A-ATACTC
• MyVariant Identifiers: chr7:g.7268352_7268353insTACTC (hg19) ; chr7:g.7228721_7228722insTACTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7228723_7228727dup , CM000669.2:g.7228723_7228727dup	GRCh38
NC_000007.13:g.7268354_7268358dup , CM000669.1:g.7268354_7268358dup	GRCh37
NC_000007.12:g.7234879_7234883dup	NCBI36
NG_027732.1:g.51109_51113dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436587.7:c.-17-5580_-17-5576dup MANE Select	ENSP00000389176.2:n.-17-5580_-17-5576dup
ENST00000419721.5:c.-17-5580_-17-5576dup	ENSP00000415400.1:n.-17-5580_-17-5576dup
ENST00000429911.5:c.-17-5580_-17-5576dup	ENSP00000407666.1:n.-17-5580_-17-5576dup
ENST00000436587.6:c.-17-5580_-17-5576dup	ENSP00000389176.2:n.-17-5580_-17-5576dup
ENST00000476068.1:n.192-5580_192-5576dup
NM_020156.4:c.-17-5580_-17-5576dup	NP_064541.1:n.-17-5580_-17-5576dup
XM_005249812.1:c.8-5580_8-5576dup	XP_005249869.1:n.8-5580_8-5576dup
XM_011515453.1:c.-17-5580_-17-5576dup	XP_011513755.1:n.-17-5580_-17-5576dup
XM_011515454.1:c.-17-5580_-17-5576dup	XP_011513756.1:n.-17-5580_-17-5576dup
XM_011515455.1:c.-17-5580_-17-5576dup	XP_011513757.1:n.-17-5580_-17-5576dup
XM_011515456.1:c.-17-5580_-17-5576dup	XP_011513758.1:n.-17-5580_-17-5576dup
XM_011515453.2:c.-17-5580_-17-5576dup	XP_011513755.1:n.-17-5580_-17-5576dup
XM_011515455.2:c.-17-5580_-17-5576dup	XP_011513757.1:n.-17-5580_-17-5576dup
XM_011515456.2:c.-17-5580_-17-5576dup	XP_011513758.1:n.-17-5580_-17-5576dup
XM_017012442.1:c.-17-5580_-17-5576dup	XP_016867931.1:n.-17-5580_-17-5576dup
XM_017012444.1:c.-17-5580_-17-5576dup	XP_016867933.1:n.-17-5580_-17-5576dup
XM_017012445.1:c.-17-5580_-17-5576dup	XP_016867934.1:n.-17-5580_-17-5576dup
XM_017012446.1:c.-17-5580_-17-5576dup	XP_016867935.1:n.-17-5580_-17-5576dup
XM_017012447.1:c.-17-5580_-17-5576dup	XP_016867936.1:n.-17-5580_-17-5576dup
XM_017012448.1:c.-17-5580_-17-5576dup	XP_016867937.1:n.-17-5580_-17-5576dup
XM_024446838.1:c.-17-5580_-17-5576dup	XP_024302606.1:n.-17-5580_-17-5576dup
NM_020156.5:c.-17-5580_-17-5576dup MANE Select	NP_064541.1:n.-17-5580_-17-5576dup