Canonical Allele Identifier: CA1683032351
Gene: MAD1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2225356_2225357delinsGC , CM000669.2:g.2225356_2225357delinsGC GRCh38
NC_000007.13:g.2264991_2264992delinsGC , CM000669.1:g.2264991_2264992delinsGC GRCh37
NC_000007.12:g.2231517_2231518delinsGC NCBI36
NG_011518.1:g.12592_12593delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000265854.12:c.291+53_291+54delinsGC MANE Select ENSP00000265854.7:n.291+53_291+54delinsGC
ENST00000651235.1:c.*2699+53_*2699+54delinsGC ENSP00000498895.1:n.*2699+53_*2699+54delinsGC
ENST00000265854.11:c.291+53_291+54delinsGC ENSP00000265854.7:n.291+53_291+54delinsGC
ENST00000399654.6:c.291+53_291+54delinsGC ENSP00000382562.2:n.291+53_291+54delinsGC
ENST00000402746.5:c.-124-2603_-124-2602delinsGC ENSP00000384155.1:n.-124-2603_-124-2602delinsGC
ENST00000406869.5:c.291+53_291+54delinsGC ENSP00000385334.1:n.291+53_291+54delinsGC
ENST00000429625.5:c.78+53_78+54delinsGC ENSP00000413139.1:n.78+53_78+54delinsGC
ENST00000429779.1:c.291+53_291+54delinsGC ENSP00000395457.1:n.291+53_291+54delinsGC
ENST00000455998.5:c.151-2603_151-2602delinsGC ENSP00000390099.1:n.151-2603_151-2602delinsGC
NM_001013836.1:c.291+53_291+54delinsGC NP_001013858.1:n.291+53_291+54delinsGC
NM_001013837.1:c.291+53_291+54delinsGC NP_001013859.1:n.291+53_291+54delinsGC
NM_001304523.1:c.291+53_291+54delinsGC NP_001291452.1:n.291+53_291+54delinsGC
NM_001304524.1:c.-124-2603_-124-2602delinsGC NP_001291453.1:n.-124-2603_-124-2602delinsGC
NM_003550.2:c.291+53_291+54delinsGC NP_003541.2:n.291+53_291+54delinsGC
XM_005249877.1:c.151-2603_151-2602delinsGC XP_005249934.1:n.151-2603_151-2602delinsGC
XM_011515567.1:c.291+53_291+54delinsGC XP_011513869.1:n.291+53_291+54delinsGC
XM_011515568.1:c.291+53_291+54delinsGC XP_011513870.1:n.291+53_291+54delinsGC
XM_011515570.1:c.291+53_291+54delinsGC XP_011513872.1:n.291+53_291+54delinsGC
XM_011515568.3:c.291+53_291+54delinsGC XP_011513870.1:n.291+53_291+54delinsGC
XM_017012690.1:c.483+53_483+54delinsGC XP_016868179.1:n.483+53_483+54delinsGC
XM_024446951.1:c.291+53_291+54delinsGC XP_024302719.1:n.291+53_291+54delinsGC
XM_024446952.1:c.291+53_291+54delinsGC XP_024302720.1:n.291+53_291+54delinsGC
NM_001013836.2:c.291+53_291+54delinsGC MANE Select NP_001013858.1:n.291+53_291+54delinsGC
NM_001013837.2:c.291+53_291+54delinsGC NP_001013859.1:n.291+53_291+54delinsGC
NM_001304523.2:c.291+53_291+54delinsGC NP_001291452.1:n.291+53_291+54delinsGC
NM_001304524.2:c.-124-2603_-124-2602delinsGC NP_001291453.1:n.-124-2603_-124-2602delinsGC
NM_003550.3:c.291+53_291+54delinsGC NP_003541.2:n.291+53_291+54delinsGC