Canonical Allele Identifier: CA2615842708

Gene: ATM

Linked Data

• ClinVar Variation Id: 3148574
• ClinVar RCV Id: RCV004442468
• gnomAD v4: 11-108244104-TATTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108244106_108244109del , CM000673.2:g.108244106_108244109del	GRCh38
NC_000011.9:g.108114833_108114836del , CM000673.1:g.108114833_108114836del	GRCh37
NC_000011.8:g.107620043_107620046del	NCBI36
NG_009830.1:g.26275_26278del , LRG_135:g.26275_26278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.650_653del	ENSP00000388058.2:p.Ile217SerfsTer12
ENST00000713593.1:c.*121_*124del	ENSP00000518889.1:n.*121_*124del
ENST00000278616.9:c.650_653del	ENSP00000278616.4:p.Ile217SerfsTer12
ENST00000682430.1:n.749_752del
ENST00000682516.1:n.784_787del
ENST00000682956.1:n.784_787del
ENST00000683100.1:n.2328_2331del
ENST00000683174.1:n.800_803del
ENST00000683605.1:n.145_148del
ENST00000684037.1:c.650_653del	ENSP00000508245.1:p.Ile217SerfsTer12
ENST00000684061.1:n.784_787del
ENST00000684179.1:n.619_622del
ENST00000527805.6:c.650_653del	ENSP00000435747.2:p.Ile217SerfsTer12
ENST00000675595.1:c.485_488del	ENSP00000502563.1:p.Ile162SerfsTer12
ENST00000675843.1:c.650_653del MANE Select	ENSP00000501606.1:p.Ile217SerfsTer12
ENST00000278616.8:c.650_653del	ENSP00000278616.4:p.Ile217SerfsTer12
ENST00000452508.6:c.650_653del	ENSP00000388058.2:p.Ile217SerfsTer12
ENST00000527805.5:c.650_653del	ENSP00000435747.1:p.Ile217SerfsTer12
NM_000051.3:c.650_653del , LRG_135t1:c.650_653del	NP_000042.3:p.Ile217SerfsTer12
XM_005271561.3:c.650_653del	XP_005271618.2:p.Ile217SerfsTer12
XM_005271562.3:c.650_653del	XP_005271619.2:p.Ile217SerfsTer12
XM_006718843.2:c.650_653del	XP_006718906.1:p.Ile217SerfsTer12
XM_011542840.1:c.650_653del	XP_011541142.1:p.Ile217SerfsTer12
XM_011542841.1:c.650_653del	XP_011541143.1:p.Ile217SerfsTer12
XM_011542842.1:c.485_488del	XP_011541144.1:p.Ile162SerfsTer12
XM_011542843.1:c.650_653del	XP_011541145.1:p.Ile217SerfsTer12
XM_011542844.1:c.-395_-392del	XP_011541146.1:n.-395_-392del
XM_011542846.1:c.650_653del	XP_011541148.1:p.Ile217SerfsTer12
NM_001351834.1:c.650_653del	NP_001338763.1:p.Ile217SerfsTer12
XM_005271562.5:c.650_653del	XP_005271619.2:p.Ile217SerfsTer12
XM_006718843.4:c.650_653del	XP_006718906.1:p.Ile217SerfsTer12
XM_011542840.3:c.650_653del	XP_011541142.1:p.Ile217SerfsTer12
XM_011542842.3:c.485_488del	XP_011541144.1:p.Ile162SerfsTer12
XM_011542843.2:c.650_653del	XP_011541145.1:p.Ile217SerfsTer12
XM_011542844.3:c.-395_-392del	XP_011541146.1:n.-395_-392del
XM_017017789.2:c.650_653del	XP_016873278.1:p.Ile217SerfsTer12
XM_017017790.2:c.650_653del	XP_016873279.1:p.Ile217SerfsTer12
XM_017017791.1:c.650_653del	XP_016873280.1:p.Ile217SerfsTer12
XM_017017792.2:c.650_653del	XP_016873281.1:p.Ile217SerfsTer12
XR_002957150.1:n.1383_1386del
NM_001351834.2:c.650_653del	NP_001338763.1:p.Ile217SerfsTer12
NM_000051.4:c.650_653del MANE Select	NP_000042.3:p.Ile217SerfsTer12