Canonical Allele Identifier: CA1097589893

Gene: MAD1L1

Linked Data

• dbSNP Id: rs1793819933
• gnomAD v3: 7-2225212-ACGGCC-A
• gnomAD v4: 7-2225212-ACGGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2225213_2225217del , CM000669.2:g.2225213_2225217del	GRCh38
NC_000007.13:g.2264848_2264852del , CM000669.1:g.2264848_2264852del	GRCh37
NC_000007.12:g.2231374_2231378del	NCBI36
NG_011518.1:g.12732_12736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265854.12:c.291+193_291+197del MANE Select	ENSP00000265854.7:n.291+193_291+197del
ENST00000651235.1:c.*2699+193_*2699+197del	ENSP00000498895.1:n.*2699+193_*2699+197del
ENST00000265854.11:c.291+193_291+197del	ENSP00000265854.7:n.291+193_291+197del
ENST00000399654.6:c.291+193_291+197del	ENSP00000382562.2:n.291+193_291+197del
ENST00000402746.5:c.-124-2463_-124-2459del	ENSP00000384155.1:n.-124-2463_-124-2459del
ENST00000406869.5:c.291+193_291+197del	ENSP00000385334.1:n.291+193_291+197del
ENST00000429625.5:c.78+193_78+197del	ENSP00000413139.1:n.78+193_78+197del
ENST00000429779.1:c.291+193_291+197del	ENSP00000395457.1:n.291+193_291+197del
ENST00000455998.5:c.151-2463_151-2459del	ENSP00000390099.1:n.151-2463_151-2459del
NM_001013836.1:c.291+193_291+197del	NP_001013858.1:n.291+193_291+197del
NM_001013837.1:c.291+193_291+197del	NP_001013859.1:n.291+193_291+197del
NM_001304523.1:c.291+193_291+197del	NP_001291452.1:n.291+193_291+197del
NM_001304524.1:c.-124-2463_-124-2459del	NP_001291453.1:n.-124-2463_-124-2459del
NM_003550.2:c.291+193_291+197del	NP_003541.2:n.291+193_291+197del
XM_005249877.1:c.151-2463_151-2459del	XP_005249934.1:n.151-2463_151-2459del
XM_011515567.1:c.291+193_291+197del	XP_011513869.1:n.291+193_291+197del
XM_011515568.1:c.291+193_291+197del	XP_011513870.1:n.291+193_291+197del
XM_011515570.1:c.291+193_291+197del	XP_011513872.1:n.291+193_291+197del
XM_011515568.3:c.291+193_291+197del	XP_011513870.1:n.291+193_291+197del
XM_017012690.1:c.483+193_483+197del	XP_016868179.1:n.483+193_483+197del
XM_024446951.1:c.291+193_291+197del	XP_024302719.1:n.291+193_291+197del
XM_024446952.1:c.291+193_291+197del	XP_024302720.1:n.291+193_291+197del
NM_001013836.2:c.291+193_291+197del MANE Select	NP_001013858.1:n.291+193_291+197del
NM_001013837.2:c.291+193_291+197del	NP_001013859.1:n.291+193_291+197del
NM_001304523.2:c.291+193_291+197del	NP_001291452.1:n.291+193_291+197del
NM_001304524.2:c.-124-2463_-124-2459del	NP_001291453.1:n.-124-2463_-124-2459del
NM_003550.3:c.291+193_291+197del	NP_003541.2:n.291+193_291+197del