Canonical Allele Identifier: CA572153240

Gene: MAD1L1

Linked Data

• dbSNP Id: rs1793823134
• gnomAD v2: 7-2264877-TTGCTCCCAGGGACTGGGATCTGATTTCTTAAGACCTGGCAGGTACCATGCACAGCCCC-T
• gnomAD v3: 7-2225242-TTGCTCCCAGGGACTGGGATCTGATTTCTTAAGACCTGGCAGGTACCATGCACAGCCCC-T
• gnomAD v4: 7-2225242-TTGCTCCCAGGGACTGGGATCTGATTTCTTAAGACCTGGCAGGTACCATGCACAGCCCC-T
• MyVariant Identifiers: chr7:g.2264878_2264935del (hg19) ; chr7:g.2225243_2225300del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2225243_2225300del , CM000669.2:g.2225243_2225300del	GRCh38
NC_000007.13:g.2264878_2264935del , CM000669.1:g.2264878_2264935del	GRCh37
NC_000007.12:g.2231404_2231461del	NCBI36
NG_011518.1:g.12649_12706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265854.12:c.291+110_291+167del MANE Select	ENSP00000265854.7:n.291+110_291+167del
ENST00000651235.1:c.*2699+110_*2699+167del	ENSP00000498895.1:n.*2699+110_*2699+167del
ENST00000265854.11:c.291+110_291+167del	ENSP00000265854.7:n.291+110_291+167del
ENST00000399654.6:c.291+110_291+167del	ENSP00000382562.2:n.291+110_291+167del
ENST00000402746.5:c.-124-2546_-124-2489del	ENSP00000384155.1:n.-124-2546_-124-2489del
ENST00000406869.5:c.291+110_291+167del	ENSP00000385334.1:n.291+110_291+167del
ENST00000429625.5:c.78+110_78+167del	ENSP00000413139.1:n.78+110_78+167del
ENST00000429779.1:c.291+110_291+167del	ENSP00000395457.1:n.291+110_291+167del
ENST00000455998.5:c.151-2546_151-2489del	ENSP00000390099.1:n.151-2546_151-2489del
NM_001013836.1:c.291+110_291+167del	NP_001013858.1:n.291+110_291+167del
NM_001013837.1:c.291+110_291+167del	NP_001013859.1:n.291+110_291+167del
NM_001304523.1:c.291+110_291+167del	NP_001291452.1:n.291+110_291+167del
NM_001304524.1:c.-124-2546_-124-2489del	NP_001291453.1:n.-124-2546_-124-2489del
NM_003550.2:c.291+110_291+167del	NP_003541.2:n.291+110_291+167del
XM_005249877.1:c.151-2546_151-2489del	XP_005249934.1:n.151-2546_151-2489del
XM_011515567.1:c.291+110_291+167del	XP_011513869.1:n.291+110_291+167del
XM_011515568.1:c.291+110_291+167del	XP_011513870.1:n.291+110_291+167del
XM_011515570.1:c.291+110_291+167del	XP_011513872.1:n.291+110_291+167del
XM_011515568.3:c.291+110_291+167del	XP_011513870.1:n.291+110_291+167del
XM_017012690.1:c.483+110_483+167del	XP_016868179.1:n.483+110_483+167del
XM_024446951.1:c.291+110_291+167del	XP_024302719.1:n.291+110_291+167del
XM_024446952.1:c.291+110_291+167del	XP_024302720.1:n.291+110_291+167del
NM_001013836.2:c.291+110_291+167del MANE Select	NP_001013858.1:n.291+110_291+167del
NM_001013837.2:c.291+110_291+167del	NP_001013859.1:n.291+110_291+167del
NM_001304523.2:c.291+110_291+167del	NP_001291452.1:n.291+110_291+167del
NM_001304524.2:c.-124-2546_-124-2489del	NP_001291453.1:n.-124-2546_-124-2489del
NM_003550.3:c.291+110_291+167del	NP_003541.2:n.291+110_291+167del