Canonical Allele Identifier: CA1683032401
Gene: MAD1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2225450_2225460delinsTCCACTCGAGC , CM000669.2:g.2225450_2225460delinsTCCACTCGAGC GRCh38
NC_000007.13:g.2265085_2265095delinsTCCACTCGAGC , CM000669.1:g.2265085_2265095delinsTCCACTCGAGC GRCh37
NC_000007.12:g.2231611_2231621delinsTCCACTCGAGC NCBI36
NG_011518.1:g.12489_12499delinsGCTCGAGTGGA

Transcript Alleles

HGVS Amino-acid change
ENST00000265854.12:c.241_251delinsGCTCGAGTGGA MANE Select ENSP00000265854.7:p.Ala81=
ENST00000651235.1:c.*2649_*2659delinsGCTCGAGTGGA ENSP00000498895.1:n.*2649_*2659delinsGCTCGAGTGGA
ENST00000265854.11:c.241_251delinsGCTCGAGTGGA ENSP00000265854.7:p.Ala81=
ENST00000399654.6:c.241_251delinsGCTCGAGTGGA ENSP00000382562.2:p.Ala81=
ENST00000402746.5:c.-124-2706_-124-2696delinsGCTCGAGTGGA ENSP00000384155.1:n.-124-2706_-124-2696delinsGCTCGAGTGGA
ENST00000406869.5:c.241_251delinsGCTCGAGTGGA ENSP00000385334.1:p.Ala81=
ENST00000429625.5:c.28_38delinsGCTCGAGTGGA ENSP00000413139.1:p.Ala10=
ENST00000429779.1:c.241_251delinsGCTCGAGTGGA ENSP00000395457.1:p.Ala81=
ENST00000455998.5:c.151-2706_151-2696delinsGCTCGAGTGGA ENSP00000390099.1:n.151-2706_151-2696delinsGCTCGAGTGGA
NM_001013836.1:c.241_251delinsGCTCGAGTGGA NP_001013858.1:p.Ala81=
NM_001013837.1:c.241_251delinsGCTCGAGTGGA NP_001013859.1:p.Ala81=
NM_001304523.1:c.241_251delinsGCTCGAGTGGA NP_001291452.1:p.Ala81=
NM_001304524.1:c.-124-2706_-124-2696delinsGCTCGAGTGGA NP_001291453.1:n.-124-2706_-124-2696delinsGCTCGAGTGGA
NM_003550.2:c.241_251delinsGCTCGAGTGGA NP_003541.2:p.Ala81=
XM_005249877.1:c.151-2706_151-2696delinsGCTCGAGTGGA XP_005249934.1:n.151-2706_151-2696delinsGCTCGAGTGGA
XM_011515567.1:c.241_251delinsGCTCGAGTGGA XP_011513869.1:p.Ala81=
XM_011515568.1:c.241_251delinsGCTCGAGTGGA XP_011513870.1:p.Ala81=
XM_011515570.1:c.241_251delinsGCTCGAGTGGA XP_011513872.1:p.Ala81=
XM_011515568.3:c.241_251delinsGCTCGAGTGGA XP_011513870.1:p.Ala81=
XM_017012690.1:c.433_443delinsGCTCGAGTGGA XP_016868179.1:p.Ala145=
XM_024446951.1:c.241_251delinsGCTCGAGTGGA XP_024302719.1:p.Ala81=
XM_024446952.1:c.241_251delinsGCTCGAGTGGA XP_024302720.1:p.Ala81=
NM_001013836.2:c.241_251delinsGCTCGAGTGGA MANE Select NP_001013858.1:p.Ala81=
NM_001013837.2:c.241_251delinsGCTCGAGTGGA NP_001013859.1:p.Ala81=
NM_001304523.2:c.241_251delinsGCTCGAGTGGA NP_001291452.1:p.Ala81=
NM_001304524.2:c.-124-2706_-124-2696delinsGCTCGAGTGGA NP_001291453.1:n.-124-2706_-124-2696delinsGCTCGAGTGGA
NM_003550.3:c.241_251delinsGCTCGAGTGGA NP_003541.2:p.Ala81=