Canonical Allele Identifier: CA1685978662
Gene: C1GALT1 HGNC NCBI

Linked Data

dbSNP Id: rs1783200156

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7233768_7233769del , CM000669.2:g.7233768_7233769del GRCh38
NC_000007.13:g.7273399_7273400del , CM000669.1:g.7273399_7273400del GRCh37
NC_000007.12:g.7239924_7239925del NCBI36
NG_027732.1:g.56154_56155del

Transcript Alleles

HGVS Amino-acid Change
ENST00000436587.7:c.-17-535_-17-534del MANE Select ENSP00000389176.2:n.-17-535_-17-534del
ENST00000419721.5:c.-17-535_-17-534del ENSP00000415400.1:n.-17-535_-17-534del
ENST00000429911.5:c.-17-535_-17-534del ENSP00000407666.1:n.-17-535_-17-534del
ENST00000436587.6:c.-17-535_-17-534del ENSP00000389176.2:n.-17-535_-17-534del
ENST00000476068.1:n.192-535_192-534del
NM_020156.4:c.-17-535_-17-534del NP_064541.1:n.-17-535_-17-534del
XM_005249812.1:c.8-535_8-534del XP_005249869.1:n.8-535_8-534del
XM_011515453.1:c.-17-535_-17-534del XP_011513755.1:n.-17-535_-17-534del
XM_011515454.1:c.-17-535_-17-534del XP_011513756.1:n.-17-535_-17-534del
XM_011515455.1:c.-17-535_-17-534del XP_011513757.1:n.-17-535_-17-534del
XM_011515456.1:c.-17-535_-17-534del XP_011513758.1:n.-17-535_-17-534del
XM_011515453.2:c.-17-535_-17-534del XP_011513755.1:n.-17-535_-17-534del
XM_011515455.2:c.-17-535_-17-534del XP_011513757.1:n.-17-535_-17-534del
XM_011515456.2:c.-17-535_-17-534del XP_011513758.1:n.-17-535_-17-534del
XM_017012442.1:c.-17-535_-17-534del XP_016867931.1:n.-17-535_-17-534del
XM_017012444.1:c.-17-535_-17-534del XP_016867933.1:n.-17-535_-17-534del
XM_017012445.1:c.-17-535_-17-534del XP_016867934.1:n.-17-535_-17-534del
XM_017012446.1:c.-17-535_-17-534del XP_016867935.1:n.-17-535_-17-534del
XM_017012447.1:c.-17-535_-17-534del XP_016867936.1:n.-17-535_-17-534del
XM_017012448.1:c.-17-535_-17-534del XP_016867937.1:n.-17-535_-17-534del
XM_024446838.1:c.-17-535_-17-534del XP_024302606.1:n.-17-535_-17-534del
NM_020156.5:c.-17-535_-17-534del MANE Select NP_064541.1:n.-17-535_-17-534del