Canonical Allele Identifier: CA572153245

Gene: MAD1L1

Linked Data

• dbSNP Id: rs1793825326
• gnomAD v2: 7-2264891-TGGGATCTGATTTCTTAAGACCTGGCAGGTACCATGCACAGCCCCCTTGCTCCC-T
• gnomAD v3: 7-2225256-TGGGATCTGATTTCTTAAGACCTGGCAGGTACCATGCACAGCCCCCTTGCTCCC-T
• gnomAD v4: 7-2225256-TGGGATCTGATTTCTTAAGACCTGGCAGGTACCATGCACAGCCCCCTTGCTCCC-T
• MyVariant Identifiers: chr7:g.2264892_2264944del (hg19) ; chr7:g.2225257_2225309del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2225257_2225309del , CM000669.2:g.2225257_2225309del	GRCh38
NC_000007.13:g.2264892_2264944del , CM000669.1:g.2264892_2264944del	GRCh37
NC_000007.12:g.2231418_2231470del	NCBI36
NG_011518.1:g.12640_12692del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265854.12:c.291+101_291+153del MANE Select	ENSP00000265854.7:n.291+101_291+153del
ENST00000651235.1:c.*2699+101_*2699+153del	ENSP00000498895.1:n.*2699+101_*2699+153del
ENST00000265854.11:c.291+101_291+153del	ENSP00000265854.7:n.291+101_291+153del
ENST00000399654.6:c.291+101_291+153del	ENSP00000382562.2:n.291+101_291+153del
ENST00000402746.5:c.-124-2555_-124-2503del	ENSP00000384155.1:n.-124-2555_-124-2503del
ENST00000406869.5:c.291+101_291+153del	ENSP00000385334.1:n.291+101_291+153del
ENST00000429625.5:c.78+101_78+153del	ENSP00000413139.1:n.78+101_78+153del
ENST00000429779.1:c.291+101_291+153del	ENSP00000395457.1:n.291+101_291+153del
ENST00000455998.5:c.151-2555_151-2503del	ENSP00000390099.1:n.151-2555_151-2503del
NM_001013836.1:c.291+101_291+153del	NP_001013858.1:n.291+101_291+153del
NM_001013837.1:c.291+101_291+153del	NP_001013859.1:n.291+101_291+153del
NM_001304523.1:c.291+101_291+153del	NP_001291452.1:n.291+101_291+153del
NM_001304524.1:c.-124-2555_-124-2503del	NP_001291453.1:n.-124-2555_-124-2503del
NM_003550.2:c.291+101_291+153del	NP_003541.2:n.291+101_291+153del
XM_005249877.1:c.151-2555_151-2503del	XP_005249934.1:n.151-2555_151-2503del
XM_011515567.1:c.291+101_291+153del	XP_011513869.1:n.291+101_291+153del
XM_011515568.1:c.291+101_291+153del	XP_011513870.1:n.291+101_291+153del
XM_011515570.1:c.291+101_291+153del	XP_011513872.1:n.291+101_291+153del
XM_011515568.3:c.291+101_291+153del	XP_011513870.1:n.291+101_291+153del
XM_017012690.1:c.483+101_483+153del	XP_016868179.1:n.483+101_483+153del
XM_024446951.1:c.291+101_291+153del	XP_024302719.1:n.291+101_291+153del
XM_024446952.1:c.291+101_291+153del	XP_024302720.1:n.291+101_291+153del
NM_001013836.2:c.291+101_291+153del MANE Select	NP_001013858.1:n.291+101_291+153del
NM_001013837.2:c.291+101_291+153del	NP_001013859.1:n.291+101_291+153del
NM_001304523.2:c.291+101_291+153del	NP_001291452.1:n.291+101_291+153del
NM_001304524.2:c.-124-2555_-124-2503del	NP_001291453.1:n.-124-2555_-124-2503del
NM_003550.3:c.291+101_291+153del	NP_003541.2:n.291+101_291+153del