Canonical Allele Identifier: CA1683032393
Gene: MAD1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1793838067

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2225438_2225440del , CM000669.2:g.2225438_2225440del GRCh38
NC_000007.13:g.2265073_2265075del , CM000669.1:g.2265073_2265075del GRCh37
NC_000007.12:g.2231599_2231601del NCBI36
NG_011518.1:g.12512_12514del

Transcript Alleles

HGVS Amino-acid change
ENST00000265854.12:c.264_266del MANE Select ENSP00000265854.7:p.Ala89del
ENST00000651235.1:c.*2672_*2674del ENSP00000498895.1:n.*2672_*2674del
ENST00000265854.11:c.264_266del ENSP00000265854.7:p.Ala89del
ENST00000399654.6:c.264_266del ENSP00000382562.2:p.Ala89del
ENST00000402746.5:c.-124-2683_-124-2681del ENSP00000384155.1:n.-124-2683_-124-2681de...
ENST00000406869.5:c.264_266del ENSP00000385334.1:p.Ala89del
ENST00000429625.5:c.51_53del ENSP00000413139.1:p.Ala18del
ENST00000429779.1:c.264_266del ENSP00000395457.1:p.Ala89del
ENST00000455998.5:c.151-2683_151-2681del ENSP00000390099.1:n.151-2683_151-2681del
NM_001013836.1:c.264_266del NP_001013858.1:p.Ala89del
NM_001013837.1:c.264_266del NP_001013859.1:p.Ala89del
NM_001304523.1:c.264_266del NP_001291452.1:p.Ala89del
NM_001304524.1:c.-124-2683_-124-2681del NP_001291453.1:n.-124-2683_-124-2681del
NM_003550.2:c.264_266del NP_003541.2:p.Ala89del
XM_005249877.1:c.151-2683_151-2681del XP_005249934.1:n.151-2683_151-2681del
XM_011515567.1:c.264_266del XP_011513869.1:p.Ala89del
XM_011515568.1:c.264_266del XP_011513870.1:p.Ala89del
XM_011515570.1:c.264_266del XP_011513872.1:p.Ala89del
XM_011515568.3:c.264_266del XP_011513870.1:p.Ala89del
XM_017012690.1:c.456_458del XP_016868179.1:p.Ala153del
XM_024446951.1:c.264_266del XP_024302719.1:p.Ala89del
XM_024446952.1:c.264_266del XP_024302720.1:p.Ala89del
NM_001013836.2:c.264_266del MANE Select NP_001013858.1:p.Ala89del
NM_001013837.2:c.264_266del NP_001013859.1:p.Ala89del
NM_001304523.2:c.264_266del NP_001291452.1:p.Ala89del
NM_001304524.2:c.-124-2683_-124-2681del NP_001291453.1:n.-124-2683_-124-2681del
NM_003550.3:c.264_266del NP_003541.2:p.Ala89del