Canonical Allele Identifier: CA572783379

Gene: C1GALT1

Linked Data

• dbSNP Id: rs1357121645
• gnomAD v2: 7-7268425-C-CAATT
• gnomAD v3: 7-7228794-C-CAATT
• gnomAD v4: 7-7228794-C-CAATT
• MyVariant Identifiers: chr7:g.7268425_7268426insAATT (hg19) ; chr7:g.7228794_7228795insAATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.7228796_7228799dup , CM000669.2:g.7228796_7228799dup	GRCh38
NC_000007.13:g.7268427_7268430dup , CM000669.1:g.7268427_7268430dup	GRCh37
NC_000007.12:g.7234952_7234955dup	NCBI36
NG_027732.1:g.51182_51185dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436587.7:c.-17-5507_-17-5504dup MANE Select	ENSP00000389176.2:n.-17-5507_-17-5504dup
ENST00000419721.5:c.-17-5507_-17-5504dup	ENSP00000415400.1:n.-17-5507_-17-5504dup
ENST00000429911.5:c.-17-5507_-17-5504dup	ENSP00000407666.1:n.-17-5507_-17-5504dup
ENST00000436587.6:c.-17-5507_-17-5504dup	ENSP00000389176.2:n.-17-5507_-17-5504dup
ENST00000476068.1:n.192-5507_192-5504dup
NM_020156.4:c.-17-5507_-17-5504dup	NP_064541.1:n.-17-5507_-17-5504dup
XM_005249812.1:c.8-5507_8-5504dup	XP_005249869.1:n.8-5507_8-5504dup
XM_011515453.1:c.-17-5507_-17-5504dup	XP_011513755.1:n.-17-5507_-17-5504dup
XM_011515454.1:c.-17-5507_-17-5504dup	XP_011513756.1:n.-17-5507_-17-5504dup
XM_011515455.1:c.-17-5507_-17-5504dup	XP_011513757.1:n.-17-5507_-17-5504dup
XM_011515456.1:c.-17-5507_-17-5504dup	XP_011513758.1:n.-17-5507_-17-5504dup
XM_011515453.2:c.-17-5507_-17-5504dup	XP_011513755.1:n.-17-5507_-17-5504dup
XM_011515455.2:c.-17-5507_-17-5504dup	XP_011513757.1:n.-17-5507_-17-5504dup
XM_011515456.2:c.-17-5507_-17-5504dup	XP_011513758.1:n.-17-5507_-17-5504dup
XM_017012442.1:c.-17-5507_-17-5504dup	XP_016867931.1:n.-17-5507_-17-5504dup
XM_017012444.1:c.-17-5507_-17-5504dup	XP_016867933.1:n.-17-5507_-17-5504dup
XM_017012445.1:c.-17-5507_-17-5504dup	XP_016867934.1:n.-17-5507_-17-5504dup
XM_017012446.1:c.-17-5507_-17-5504dup	XP_016867935.1:n.-17-5507_-17-5504dup
XM_017012447.1:c.-17-5507_-17-5504dup	XP_016867936.1:n.-17-5507_-17-5504dup
XM_017012448.1:c.-17-5507_-17-5504dup	XP_016867937.1:n.-17-5507_-17-5504dup
XM_024446838.1:c.-17-5507_-17-5504dup	XP_024302606.1:n.-17-5507_-17-5504dup
NM_020156.5:c.-17-5507_-17-5504dup MANE Select	NP_064541.1:n.-17-5507_-17-5504dup