Canonical Allele Identifier: CA2615845648

Gene: ATM

Linked Data

• gnomAD v4: 11-108223131-ATCTGCGCTGCAGCCACCGCCGCGGTTGATACTACTTTGACCTTCCGAGTGCAGTGGTAGGGGCGCGGAGGCAACGCAGCGGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108223141_108223223del , CM000673.2:g.108223141_108223223del	GRCh38
NC_000011.9:g.108093868_108093950del , CM000673.1:g.108093868_108093950del	GRCh37
NC_000011.8:g.107599078_107599160del	NCBI36
NG_009830.1:g.5310_5392del , LRG_135:g.5310_5392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.-164_-119+37del
ENST00000683914.2:c.-76_-31+37del
ENST00000713593.1:c.-76_-31+37del
ENST00000683174.1:n.75_120+37del
ENST00000683468.1:c.-4484_-4402del	ENSP00000508178.1:n.-4484_-4402del
ENST00000683488.1:n.98_180del
ENST00000527805.6:c.-76_-31+37del
ENST00000675595.1:c.-76_-31+37del
ENST00000675843.1:c.-76_-31+37del
ENST00000278616.8:c.-76_-31+37del
ENST00000452508.6:c.-164_-119+37del
ENST00000527805.5:c.-76_-31+37del
ENST00000527891.5:c.-76_-31+37del
ENST00000530958.5:c.-4484_-4402del	ENSP00000483338.1:n.-4484_-4402del
ENST00000532931.5:c.-150_-105+37del
NM_000051.3:c.-76_-31+37del , LRG_135t1:c.-76_-31+37del
XM_005271561.3:c.-164_-119+37del
XM_011542841.1:c.-867_-822+37del
XM_011542842.1:c.-76_-31+37del
XM_011542843.1:c.-76_-31+37del
XM_011542846.1:c.-76_-31+37del
NM_001351834.1:c.-164_-119+37del
NM_001351835.1:c.-76_-31+37del
XM_011542842.3:c.-76_-31+37del
XM_011542843.2:c.-76_-31+37del
XM_011542844.3:c.-1098_-1053+37del
XM_017017791.1:c.-76_-31+37del
XM_017017792.2:c.-76_-31+37del
XR_002957150.1:n.658_703+37del
NM_001351834.2:c.-164_-119+37del
NM_000051.4:c.-76_-31+37del
NM_001351835.2:c.-76_-31+37del