Canonical Allele Identifier: CA2681464317

Gene: MAD1L1

Linked Data

• gnomAD v4: 7-2225301-C-CTTGCTCCCAGGGACTGGGATCTGATTGCTTAACACCTGCCCGGGCCCCTGCACAGCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2225316_2225317insGGGATCTGATTGCTTAACACCTGCCCGGGCCCCTGCACAGCCCCATTGCTCCCAGGGACT , CM000669.2:g.2225316_2225317insGGGATCTGATTGCTTAACACCTGCCCGGGCCCCTGCACAGCCCCATTGCTCCCAGGGACT	GRCh38
NC_000007.13:g.2264951_2264952insGGGATCTGATTGCTTAACACCTGCCCGGGCCCCTGCACAGCCCCATTGCTCCCAGGGACT , CM000669.1:g.2264951_2264952insGGGATCTGATTGCTTAACACCTGCCCGGGCCCCTGCACAGCCCCATTGCTCCCAGGGACT	GRCh37
NC_000007.12:g.2231477_2231478insGGGATCTGATTGCTTAACACCTGCCCGGGCCCCTGCACAGCCCCATTGCTCCCAGGGACT	NCBI36
NG_011518.1:g.12647_12648insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265854.12:c.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA MANE Select	ENSP00000265854.7:n.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGC...
ENST00000651235.1:c.*2699+108_*2699+109insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA	ENSP00000498895.1:n.*2699+108_*2699+109insTGGGGCTGTGCAGGGGCCC...
ENST00000265854.11:c.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA	ENSP00000265854.7:n.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGC...
ENST00000399654.6:c.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA	ENSP00000382562.2:n.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGC...
ENST00000402746.5:c.-124-2548_-124-2547insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA	ENSP00000384155.1:n.-124-2548_-124-2547insTGGGGCTGTGCAGGGGCCC...
ENST00000406869.5:c.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA	ENSP00000385334.1:n.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGC...
ENST00000429625.5:c.78+108_78+109insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA	ENSP00000413139.1:n.78+108_78+109insTGGGGCTGTGCAGGGGCCCGGGCAG...
ENST00000429779.1:c.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA	ENSP00000395457.1:n.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGC...
ENST00000455998.5:c.151-2548_151-2547insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA	ENSP00000390099.1:n.151-2548_151-2547insTGGGGCTGTGCAGGGGCCCGG...
NM_001013836.1:c.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA	NP_001013858.1:n.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGG...
NM_001013837.1:c.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA	NP_001013859.1:n.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGG...
NM_001304523.1:c.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA	NP_001291452.1:n.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGG...
NM_001304524.1:c.-124-2548_-124-2547insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA	NP_001291453.1:n.-124-2548_-124-2547insTGGGGCTGTGCAGGGGCCCGGG...
NM_003550.2:c.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA	NP_003541.2:n.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGGTGT...
XM_005249877.1:c.151-2548_151-2547insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA	XP_005249934.1:n.151-2548_151-2547insTGGGGCTGTGCAGGGGCCCGGGCA...
XM_011515567.1:c.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA	XP_011513869.1:n.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGG...
XM_011515568.1:c.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA	XP_011513870.1:n.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGG...
XM_011515570.1:c.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA	XP_011513872.1:n.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGG...
XM_011515568.3:c.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA	XP_011513870.1:n.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGG...
XM_017012690.1:c.483+108_483+109insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA	XP_016868179.1:n.483+108_483+109insTGGGGCTGTGCAGGGGCCCGGGCAGG...
XM_024446951.1:c.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA	XP_024302719.1:n.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGG...
XM_024446952.1:c.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA	XP_024302720.1:n.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGG...
NM_001013836.2:c.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA MANE Select	NP_001013858.1:n.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGG...
NM_001013837.2:c.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA	NP_001013859.1:n.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGG...
NM_001304523.2:c.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA	NP_001291452.1:n.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGG...
NM_001304524.2:c.-124-2548_-124-2547insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA	NP_001291453.1:n.-124-2548_-124-2547insTGGGGCTGTGCAGGGGCCCGGG...
NM_003550.3:c.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGGTGTTAAGCAATCAGATCCCAGTCCCTGGGAGCAA	NP_003541.2:n.291+108_291+109insTGGGGCTGTGCAGGGGCCCGGGCAGGTGT...