Canonical Allele Identifier: CA1998783168

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108267131_108267133delinsAAG , CM000673.2:g.108267131_108267133delinsAAG	GRCh38
NC_000011.9:g.108137858_108137860delinsAAG , CM000673.1:g.108137858_108137860delinsAAG	GRCh37
NC_000011.8:g.107643068_107643070delinsAAG	NCBI36
NG_009830.1:g.49300_49302delinsAAG , LRG_135:g.49300_49302delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2467-40_2467-38delinsAAG	ENSP00000388058.2:n.2467-40_2467-38delinsAAG
ENST00000713593.1:c.*1938-40_*1938-38delinsAAG	ENSP00000518889.1:n.*1938-40_*1938-38delinsAAG
ENST00000278616.9:c.2467-40_2467-38delinsAAG	ENSP00000278616.4:n.2467-40_2467-38delinsAAG
ENST00000682516.1:n.2601-40_2601-38delinsAAG
ENST00000683174.1:n.2617-40_2617-38delinsAAG
ENST00000683605.1:n.1962-40_1962-38delinsAAG
ENST00000684037.1:c.*1402-40_*1402-38delinsAAG	ENSP00000508245.1:n.*1402-40_*1402-38delinsAAG
ENST00000527805.6:c.2467-40_2467-38delinsAAG	ENSP00000435747.2:n.2467-40_2467-38delinsAAG
ENST00000675595.1:c.2302-40_2302-38delinsAAG	ENSP00000502563.1:n.2302-40_2302-38delinsAAG
ENST00000675843.1:c.2467-40_2467-38delinsAAG MANE Select	ENSP00000501606.1:n.2467-40_2467-38delinsAAG
ENST00000278616.8:c.2467-40_2467-38delinsAAG	ENSP00000278616.4:n.2467-40_2467-38delinsAAG
ENST00000452508.6:c.2467-40_2467-38delinsAAG	ENSP00000388058.2:n.2467-40_2467-38delinsAAG
ENST00000527805.5:c.2467-40_2467-38delinsAAG	ENSP00000435747.1:n.2467-40_2467-38delinsAAG
NM_000051.3:c.2467-40_2467-38delinsAAG , LRG_135t1:c.2467-40_2467-38delinsAAG	NP_000042.3:n.2467-40_2467-38delinsAAG
XM_005271561.3:c.2467-40_2467-38delinsAAG	XP_005271618.2:n.2467-40_2467-38delinsAAG
XM_005271562.3:c.2467-40_2467-38delinsAAG	XP_005271619.2:n.2467-40_2467-38delinsAAG
XM_006718843.2:c.2467-40_2467-38delinsAAG	XP_006718906.1:n.2467-40_2467-38delinsAAG
XM_011542840.1:c.2467-40_2467-38delinsAAG	XP_011541142.1:n.2467-40_2467-38delinsAAG
XM_011542841.1:c.2467-40_2467-38delinsAAG	XP_011541143.1:n.2467-40_2467-38delinsAAG
XM_011542842.1:c.2302-40_2302-38delinsAAG	XP_011541144.1:n.2302-40_2302-38delinsAAG
XM_011542843.1:c.2467-40_2467-38delinsAAG	XP_011541145.1:n.2467-40_2467-38delinsAAG
XM_011542844.1:c.1423-40_1423-38delinsAAG	XP_011541146.1:n.1423-40_1423-38delinsAAG
XM_011542845.1:c.1159-40_1159-38delinsAAG	XP_011541147.1:n.1159-40_1159-38delinsAAG
XM_011542846.1:c.2467-40_2467-38delinsAAG	XP_011541148.1:n.2467-40_2467-38delinsAAG
NM_001351834.1:c.2467-40_2467-38delinsAAG	NP_001338763.1:n.2467-40_2467-38delinsAAG
XM_005271562.5:c.2467-40_2467-38delinsAAG	XP_005271619.2:n.2467-40_2467-38delinsAAG
XM_006718843.4:c.2467-40_2467-38delinsAAG	XP_006718906.1:n.2467-40_2467-38delinsAAG
XM_011542840.3:c.2467-40_2467-38delinsAAG	XP_011541142.1:n.2467-40_2467-38delinsAAG
XM_011542842.3:c.2302-40_2302-38delinsAAG	XP_011541144.1:n.2302-40_2302-38delinsAAG
XM_011542843.2:c.2467-40_2467-38delinsAAG	XP_011541145.1:n.2467-40_2467-38delinsAAG
XM_011542844.3:c.1423-40_1423-38delinsAAG	XP_011541146.1:n.1423-40_1423-38delinsAAG
XM_011542845.2:c.1159-40_1159-38delinsAAG	XP_011541147.1:n.1159-40_1159-38delinsAAG
XM_017017789.2:c.2467-40_2467-38delinsAAG	XP_016873278.1:n.2467-40_2467-38delinsAAG
XM_017017790.2:c.2467-40_2467-38delinsAAG	XP_016873279.1:n.2467-40_2467-38delinsAAG
XM_017017791.1:c.2467-40_2467-38delinsAAG	XP_016873280.1:n.2467-40_2467-38delinsAAG
XM_017017792.2:c.2467-40_2467-38delinsAAG	XP_016873281.1:n.2467-40_2467-38delinsAAG
XR_002957150.1:n.3200-40_3200-38delinsAAG
NM_001351834.2:c.2467-40_2467-38delinsAAG	NP_001338763.1:n.2467-40_2467-38delinsAAG
NM_000051.4:c.2467-40_2467-38delinsAAG MANE Select	NP_000042.3:n.2467-40_2467-38delinsAAG