Canonical Allele Identifier: CA1683032260
Gene: MAD1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2225233_2225241delinsACAGCCCCC , CM000669.2:g.2225233_2225241delinsACAGCCCCC GRCh38
NC_000007.13:g.2264868_2264876delinsACAGCCCCC , CM000669.1:g.2264868_2264876delinsACAGCCCCC GRCh37
NC_000007.12:g.2231394_2231402delinsACAGCCCCC NCBI36
NG_011518.1:g.12708_12716delinsGGGGGCTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265854.12:c.291+169_291+177delinsGGGGGCTGT MANE Select ENSP00000265854.7:n.291+169_291+177delinsGGGGGCTGT
ENST00000651235.1:c.*2699+169_*2699+177delinsGGGGGCTGT ENSP00000498895.1:n.*2699+169_*2699+177delinsGGGGGCTGT
ENST00000265854.11:c.291+169_291+177delinsGGGGGCTGT ENSP00000265854.7:n.291+169_291+177delinsGGGGGCTGT
ENST00000399654.6:c.291+169_291+177delinsGGGGGCTGT ENSP00000382562.2:n.291+169_291+177delinsGGGGGCTGT
ENST00000402746.5:c.-124-2487_-124-2479delinsGGGGGCTGT ENSP00000384155.1:n.-124-2487_-124-2479delinsGGGGGCTGT
ENST00000406869.5:c.291+169_291+177delinsGGGGGCTGT ENSP00000385334.1:n.291+169_291+177delinsGGGGGCTGT
ENST00000429625.5:c.78+169_78+177delinsGGGGGCTGT ENSP00000413139.1:n.78+169_78+177delinsGGGGGCTGT
ENST00000429779.1:c.291+169_291+177delinsGGGGGCTGT ENSP00000395457.1:n.291+169_291+177delinsGGGGGCTGT
ENST00000455998.5:c.151-2487_151-2479delinsGGGGGCTGT ENSP00000390099.1:n.151-2487_151-2479delinsGGGGGCTGT
NM_001013836.1:c.291+169_291+177delinsGGGGGCTGT NP_001013858.1:n.291+169_291+177delinsGGGGGCTGT
NM_001013837.1:c.291+169_291+177delinsGGGGGCTGT NP_001013859.1:n.291+169_291+177delinsGGGGGCTGT
NM_001304523.1:c.291+169_291+177delinsGGGGGCTGT NP_001291452.1:n.291+169_291+177delinsGGGGGCTGT
NM_001304524.1:c.-124-2487_-124-2479delinsGGGGGCTGT NP_001291453.1:n.-124-2487_-124-2479delinsGGGGGCTGT
NM_003550.2:c.291+169_291+177delinsGGGGGCTGT NP_003541.2:n.291+169_291+177delinsGGGGGCTGT
XM_005249877.1:c.151-2487_151-2479delinsGGGGGCTGT XP_005249934.1:n.151-2487_151-2479delinsGGGGGCTGT
XM_011515567.1:c.291+169_291+177delinsGGGGGCTGT XP_011513869.1:n.291+169_291+177delinsGGGGGCTGT
XM_011515568.1:c.291+169_291+177delinsGGGGGCTGT XP_011513870.1:n.291+169_291+177delinsGGGGGCTGT
XM_011515570.1:c.291+169_291+177delinsGGGGGCTGT XP_011513872.1:n.291+169_291+177delinsGGGGGCTGT
XM_011515568.3:c.291+169_291+177delinsGGGGGCTGT XP_011513870.1:n.291+169_291+177delinsGGGGGCTGT
XM_017012690.1:c.483+169_483+177delinsGGGGGCTGT XP_016868179.1:n.483+169_483+177delinsGGGGGCTGT
XM_024446951.1:c.291+169_291+177delinsGGGGGCTGT XP_024302719.1:n.291+169_291+177delinsGGGGGCTGT
XM_024446952.1:c.291+169_291+177delinsGGGGGCTGT XP_024302720.1:n.291+169_291+177delinsGGGGGCTGT
NM_001013836.2:c.291+169_291+177delinsGGGGGCTGT MANE Select NP_001013858.1:n.291+169_291+177delinsGGGGGCTGT
NM_001013837.2:c.291+169_291+177delinsGGGGGCTGT NP_001013859.1:n.291+169_291+177delinsGGGGGCTGT
NM_001304523.2:c.291+169_291+177delinsGGGGGCTGT NP_001291452.1:n.291+169_291+177delinsGGGGGCTGT
NM_001304524.2:c.-124-2487_-124-2479delinsGGGGGCTGT NP_001291453.1:n.-124-2487_-124-2479delinsGGGGGCTGT
NM_003550.3:c.291+169_291+177delinsGGGGGCTGT NP_003541.2:n.291+169_291+177delinsGGGGGCTGT