Canonical Allele Identifier: CA1998793446

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108297291_108297292delinsTC , CM000673.2:g.108297291_108297292delinsTC	GRCh38
NC_000011.9:g.108168018_108168019delinsTC , CM000673.1:g.108168018_108168019delinsTC	GRCh37
NC_000011.8:g.107673228_107673229delinsTC	NCBI36
NG_009830.1:g.79460_79461delinsTC , LRG_135:g.79460_79461delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.4914_4915delinsTC	ENSP00000388058.2:p.Asn1638=
ENST00000713593.1:c.*4385_*4386delinsTC	ENSP00000518889.1:n.*4385_*4386delinsTC
ENST00000278616.9:c.4914_4915delinsTC	ENSP00000278616.4:p.Asn1638=
ENST00000683174.1:n.6398_6399delinsTC
ENST00000683524.1:n.138_139delinsTC
ENST00000684152.1:n.628_629delinsTC
ENST00000527805.6:c.4616_4617delinsTC	ENSP00000435747.2:p.Ile1539=
ENST00000675595.1:c.4616_4617delinsTC	ENSP00000502563.1:p.Ile1539=
ENST00000675843.1:c.4914_4915delinsTC MANE Select	ENSP00000501606.1:p.Asn1638=
ENST00000278616.8:c.4914_4915delinsTC	ENSP00000278616.4:p.Asn1638=
ENST00000452508.6:c.4914_4915delinsTC	ENSP00000388058.2:p.Asn1638=
ENST00000524792.5:n.1129_1130delinsTC
ENST00000533690.5:n.318_319delinsTC
NM_000051.3:c.4914_4915delinsTC , LRG_135t1:c.4914_4915delinsTC	NP_000042.3:p.Asn1638=
XM_005271561.3:c.4914_4915delinsTC	XP_005271618.2:p.Asn1638=
XM_005271562.3:c.4914_4915delinsTC	XP_005271619.2:p.Asn1638=
XM_006718843.2:c.4914_4915delinsTC	XP_006718906.1:p.Asn1638=
XM_006718845.1:c.870_871delinsTC	XP_006718908.1:p.Asn290=
XM_011542840.1:c.4914_4915delinsTC	XP_011541142.1:p.Asn1638=
XM_011542841.1:c.4914_4915delinsTC	XP_011541143.1:p.Asn1638=
XM_011542842.1:c.4749_4750delinsTC	XP_011541144.1:p.Asn1583=
XM_011542843.1:c.4914_4915delinsTC	XP_011541145.1:p.Asn1638=
XM_011542844.1:c.3870_3871delinsTC	XP_011541146.1:p.Asn1290=
XM_011542845.1:c.3606_3607delinsTC	XP_011541147.1:p.Asn1202=
XM_011542846.1:c.4914_4915delinsTC	XP_011541148.1:p.Asn1638=
XM_011542847.1:c.-16_-15delinsTC	XP_011541149.1:n.-16_-15delinsTC
NM_001351834.1:c.4914_4915delinsTC	NP_001338763.1:p.Asn1638=
XM_005271562.5:c.4914_4915delinsTC	XP_005271619.2:p.Asn1638=
XM_006718843.4:c.4914_4915delinsTC	XP_006718906.1:p.Asn1638=
XM_006718845.2:c.870_871delinsTC	XP_006718908.1:p.Asn290=
XM_011542840.3:c.4914_4915delinsTC	XP_011541142.1:p.Asn1638=
XM_011542842.3:c.4749_4750delinsTC	XP_011541144.1:p.Asn1583=
XM_011542843.2:c.4914_4915delinsTC	XP_011541145.1:p.Asn1638=
XM_011542844.3:c.3870_3871delinsTC	XP_011541146.1:p.Asn1290=
XM_011542845.2:c.3606_3607delinsTC	XP_011541147.1:p.Asn1202=
XM_017017789.2:c.4914_4915delinsTC	XP_016873278.1:p.Asn1638=
XM_017017790.2:c.4914_4915delinsTC	XP_016873279.1:p.Asn1638=
XM_017017791.1:c.4914_4915delinsTC	XP_016873280.1:p.Asn1638=
XM_017017792.2:c.4914_4915delinsTC	XP_016873281.1:p.Asn1638=
XR_002957150.1:n.5514_5515delinsTC
NM_001351834.2:c.4914_4915delinsTC	NP_001338763.1:p.Asn1638=
NM_000051.4:c.4914_4915delinsTC MANE Select	NP_000042.3:p.Asn1638=