Canonical Allele Identifier: CA2725000655

Gene: ATM

Linked Data

• dbSNP Id: rs2079688703

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108243865G>C , CM000673.2:g.108243865G>C	GRCh38
NC_000011.9:g.108114592G>C , CM000673.1:g.108114592G>C	GRCh37
NC_000011.8:g.107619802G>C	NCBI36
NG_009830.1:g.26034G>C , LRG_135:g.26034G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.497-88G>C	ENSP00000388058.2:n.497-88G>C
ENST00000713593.1:c.497-110G>C	ENSP00000518889.1:n.497-110G>C
ENST00000278616.9:c.497-88G>C	ENSP00000278616.4:n.497-88G>C
ENST00000682430.1:n.596-88G>C
ENST00000682516.1:n.631-88G>C
ENST00000682956.1:n.631-88G>C
ENST00000683100.1:n.2087G>C
ENST00000683174.1:n.647-88G>C
ENST00000684037.1:c.497-88G>C	ENSP00000508245.1:n.497-88G>C
ENST00000684061.1:n.631-88G>C
ENST00000684179.1:n.466-88G>C
ENST00000527805.6:c.497-88G>C	ENSP00000435747.2:n.497-88G>C
ENST00000675595.1:c.332-88G>C	ENSP00000502563.1:n.332-88G>C
ENST00000675843.1:c.497-88G>C MANE Select	ENSP00000501606.1:n.497-88G>C
ENST00000278616.8:c.497-88G>C	ENSP00000278616.4:n.497-88G>C
ENST00000452508.6:c.497-88G>C	ENSP00000388058.2:n.497-88G>C
ENST00000527805.5:c.497-88G>C	ENSP00000435747.1:n.497-88G>C
ENST00000527891.5:c.332-88G>C	ENSP00000433955.1:n.332-88G>C
NM_000051.3:c.497-88G>C , LRG_135t1:c.497-88G>C	NP_000042.3:n.497-88G>C
XM_005271561.3:c.497-88G>C	XP_005271618.2:n.497-88G>C
XM_005271562.3:c.497-88G>C	XP_005271619.2:n.497-88G>C
XM_006718843.2:c.497-88G>C	XP_006718906.1:n.497-88G>C
XM_011542840.1:c.497-88G>C	XP_011541142.1:n.497-88G>C
XM_011542841.1:c.497-88G>C	XP_011541143.1:n.497-88G>C
XM_011542842.1:c.332-88G>C	XP_011541144.1:n.332-88G>C
XM_011542843.1:c.497-88G>C	XP_011541145.1:n.497-88G>C
XM_011542844.1:c.-526-110G>C	XP_011541146.1:n.-526-110G>C
XM_011542846.1:c.497-88G>C	XP_011541148.1:n.497-88G>C
NM_001351834.1:c.497-88G>C	NP_001338763.1:n.497-88G>C
XM_005271562.5:c.497-88G>C	XP_005271619.2:n.497-88G>C
XM_006718843.4:c.497-88G>C	XP_006718906.1:n.497-88G>C
XM_011542840.3:c.497-88G>C	XP_011541142.1:n.497-88G>C
XM_011542842.3:c.332-88G>C	XP_011541144.1:n.332-88G>C
XM_011542843.2:c.497-88G>C	XP_011541145.1:n.497-88G>C
XM_011542844.3:c.-526-110G>C	XP_011541146.1:n.-526-110G>C
XM_017017789.2:c.497-88G>C	XP_016873278.1:n.497-88G>C
XM_017017790.2:c.497-88G>C	XP_016873279.1:n.497-88G>C
XM_017017791.1:c.497-88G>C	XP_016873280.1:n.497-88G>C
XM_017017792.2:c.497-88G>C	XP_016873281.1:n.497-88G>C
XR_002957150.1:n.1230-88G>C
NM_001351834.2:c.497-88G>C	NP_001338763.1:n.497-88G>C
NM_000051.4:c.497-88G>C MANE Select	NP_000042.3:n.497-88G>C