Canonical Allele Identifier: CA4123842

Gene: MAD1L1

Linked Data

• dbSNP Id: rs774502350
• ExAC: 7:2265155 TCGAACGGATCTGCTCTGCTCTTTCCTCCAGC / T
• gnomAD v2: 7-2265155-TCGAACGGATCTGCTCTGCTCTTTCCTCCAGC-T
• gnomAD v3: 7-2225520-TCGAACGGATCTGCTCTGCTCTTTCCTCCAGC-T
• gnomAD v4: 7-2225520-TCGAACGGATCTGCTCTGCTCTTTCCTCCAGC-T
• MyVariant Identifiers: chr7:g.2265156_2265186del (hg19) ; chr7:g.2225521_2225551del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2225521_2225551del , CM000669.2:g.2225521_2225551del	GRCh38
NC_000007.13:g.2265156_2265186del , CM000669.1:g.2265156_2265186del	GRCh37
NC_000007.12:g.2231682_2231712del	NCBI36
NG_011518.1:g.12398_12428del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265854.12:c.151-1_180del
ENST00000651235.1:c.*2559-1_*2588del
ENST00000265854.11:c.151-1_180del
ENST00000399654.6:c.151-1_180del
ENST00000402746.5:c.-124-2797_-124-2767del	ENSP00000384155.1:n.-124-2797_-124-2767del
ENST00000406869.5:c.151-1_180del
ENST00000429625.5:c.-64_-34del	ENSP00000413139.1:n.-64_-34del
ENST00000429779.1:c.151-1_180del
ENST00000455998.5:c.151-2797_151-2767del	ENSP00000390099.1:n.151-2797_151-2767del
NM_001013836.1:c.151-1_180del
NM_001013837.1:c.151-1_180del
NM_001304523.1:c.151-1_180del
NM_001304524.1:c.-124-2797_-124-2767del	NP_001291453.1:n.-124-2797_-124-2767del
NM_003550.2:c.151-1_180del
XM_005249877.1:c.151-2797_151-2767del	XP_005249934.1:n.151-2797_151-2767del
XM_011515567.1:c.151-1_180del
XM_011515568.1:c.151-1_180del
XM_011515570.1:c.151-1_180del
XM_011515568.3:c.151-1_180del
XM_017012690.1:c.342_372del	XP_016868179.1:p.Leu115SerfsTer16
XM_024446951.1:c.151-1_180del
XM_024446952.1:c.151-1_180del
NM_001013836.2:c.151-1_180del
NM_001013837.2:c.151-1_180del
NM_001304523.2:c.151-1_180del
NM_001304524.2:c.-124-2797_-124-2767del	NP_001291453.1:n.-124-2797_-124-2767del
NM_003550.3:c.151-1_180del