Canonical Allele Identifier: CA6264622

Gene: ATM

Linked Data

• ClinVar Variation Id: 490594
• ClinVar RCV Id: RCV000583527 ; RCV002060607
• dbSNP Id: rs776788385
• ExAC: 11:108114666 T / TC
• gnomAD v2: 11-108114666-T-TC
• gnomAD v3: 11-108243939-T-TC
• gnomAD v4: 11-108243939-T-TC
• MyVariant Identifiers: chr11:g.108114666_108114667insC (hg19) ; chr11:g.108243939_108243940insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108243939_108243940insC , CM000673.2:g.108243939_108243940insC	GRCh38
NC_000011.9:g.108114666_108114667insC , CM000673.1:g.108114666_108114667insC	GRCh37
NC_000011.8:g.107619876_107619877insC	NCBI36
NG_009830.1:g.26108_26109insC , LRG_135:g.26108_26109insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.497-14_497-13insC	ENSP00000388058.2:n.497-14_497-13insC
ENST00000713593.1:c.497-36_497-35insC	ENSP00000518889.1:n.497-36_497-35insC
ENST00000278616.9:c.497-14_497-13insC	ENSP00000278616.4:n.497-14_497-13insC
ENST00000682430.1:n.596-14_596-13insC
ENST00000682516.1:n.631-14_631-13insC
ENST00000682956.1:n.631-14_631-13insC
ENST00000683100.1:n.2161_2162insC
ENST00000683174.1:n.647-14_647-13insC
ENST00000684037.1:c.497-14_497-13insC	ENSP00000508245.1:n.497-14_497-13insC
ENST00000684061.1:n.631-14_631-13insC
ENST00000684179.1:n.466-14_466-13insC
ENST00000527805.6:c.497-14_497-13insC	ENSP00000435747.2:n.497-14_497-13insC
ENST00000675595.1:c.332-14_332-13insC	ENSP00000502563.1:n.332-14_332-13insC
ENST00000675843.1:c.497-14_497-13insC MANE Select	ENSP00000501606.1:n.497-14_497-13insC
ENST00000278616.8:c.497-14_497-13insC	ENSP00000278616.4:n.497-14_497-13insC
ENST00000452508.6:c.497-14_497-13insC	ENSP00000388058.2:n.497-14_497-13insC
ENST00000527805.5:c.497-14_497-13insC	ENSP00000435747.1:n.497-14_497-13insC
ENST00000527891.5:c.332-14_332-13insC	ENSP00000433955.1:n.332-14_332-13insC
NM_000051.3:c.497-14_497-13insC , LRG_135t1:c.497-14_497-13insC	NP_000042.3:n.497-14_497-13insC
XM_005271561.3:c.497-14_497-13insC	XP_005271618.2:n.497-14_497-13insC
XM_005271562.3:c.497-14_497-13insC	XP_005271619.2:n.497-14_497-13insC
XM_006718843.2:c.497-14_497-13insC	XP_006718906.1:n.497-14_497-13insC
XM_011542840.1:c.497-14_497-13insC	XP_011541142.1:n.497-14_497-13insC
XM_011542841.1:c.497-14_497-13insC	XP_011541143.1:n.497-14_497-13insC
XM_011542842.1:c.332-14_332-13insC	XP_011541144.1:n.332-14_332-13insC
XM_011542843.1:c.497-14_497-13insC	XP_011541145.1:n.497-14_497-13insC
XM_011542844.1:c.-526-36_-526-35insC	XP_011541146.1:n.-526-36_-526-35insC
XM_011542846.1:c.497-14_497-13insC	XP_011541148.1:n.497-14_497-13insC
NM_001351834.1:c.497-14_497-13insC	NP_001338763.1:n.497-14_497-13insC
XM_005271562.5:c.497-14_497-13insC	XP_005271619.2:n.497-14_497-13insC
XM_006718843.4:c.497-14_497-13insC	XP_006718906.1:n.497-14_497-13insC
XM_011542840.3:c.497-14_497-13insC	XP_011541142.1:n.497-14_497-13insC
XM_011542842.3:c.332-14_332-13insC	XP_011541144.1:n.332-14_332-13insC
XM_011542843.2:c.497-14_497-13insC	XP_011541145.1:n.497-14_497-13insC
XM_011542844.3:c.-526-36_-526-35insC	XP_011541146.1:n.-526-36_-526-35insC
XM_017017789.2:c.497-14_497-13insC	XP_016873278.1:n.497-14_497-13insC
XM_017017790.2:c.497-14_497-13insC	XP_016873279.1:n.497-14_497-13insC
XM_017017791.1:c.497-14_497-13insC	XP_016873280.1:n.497-14_497-13insC
XM_017017792.2:c.497-14_497-13insC	XP_016873281.1:n.497-14_497-13insC
XR_002957150.1:n.1230-14_1230-13insC
NM_001351834.2:c.497-14_497-13insC	NP_001338763.1:n.497-14_497-13insC
NM_000051.4:c.497-14_497-13insC MANE Select	NP_000042.3:n.497-14_497-13insC