Canonical Allele Identifier: CA546894071

Gene: ATR

Linked Data

• ClinVar Variation Id: 1559483
• ClinVar RCV Id: RCV002208904
• dbSNP Id: rs1160669704
• gnomAD v2: 3-142272057-GCTGA-G
• gnomAD v3: 3-142553215-GCTGA-G
• gnomAD v4: 3-142553215-GCTGA-G
• MyVariant Identifiers: chr3:g.142272058_142272061del (hg19) ; chr3:g.142553216_142553219del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142553218_142553221del , CM000665.2:g.142553218_142553221del	GRCh38
NC_000003.11:g.142272060_142272063del , CM000665.1:g.142272060_142272063del	GRCh37
NC_000003.10:g.143754750_143754753del	NCBI36
NG_008951.1:g.30608_30611del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.2805+8_2805+11del MANE Select	ENSP00000343741.4:n.2805+8_2805+11del
ENST00000515149.3:c.*1579+8_*1579+11del	ENSP00000425897.3:n.*1579+8_*1579+11del
ENST00000653868.1:n.2834+8_2834+11del
ENST00000656582.1:n.64+8_64+11del
ENST00000656590.1:c.1595+8_1595+11del
ENST00000659195.1:n.5680+8_5680+11del
ENST00000661310.1:c.2613+8_2613+11del	ENSP00000499589.1:n.2613+8_2613+11del
ENST00000350721.8:c.2805+8_2805+11del	ENSP00000343741.4:n.2805+8_2805+11del
NM_001184.3:c.2805+8_2805+11del	NP_001175.2:n.2805+8_2805+11del
XM_011512924.1:c.2805+8_2805+11del	XP_011511226.1:n.2805+8_2805+11del
XM_011512925.1:c.2613+8_2613+11del	XP_011511227.1:n.2613+8_2613+11del
XM_011512926.1:c.2805+8_2805+11del	XP_011511228.1:n.2805+8_2805+11del
XM_011512927.1:c.2805+8_2805+11del	XP_011511229.1:n.2805+8_2805+11del
XR_924147.1:n.2894+8_2894+11del
XR_924148.1:n.2894+8_2894+11del
XR_924149.1:n.2894+8_2894+11del
NM_001354579.1:c.2613+8_2613+11del	NP_001341508.1:n.2613+8_2613+11del
XR_001740179.2:n.2894+8_2894+11del
XR_001740180.2:n.2894+8_2894+11del
XR_001740181.2:n.2894+8_2894+11del
XR_001740182.1:n.2894+8_2894+11del
XR_002959543.1:n.2894+8_2894+11del
XR_924148.2:n.2894+8_2894+11del
NM_001184.4:c.2805+8_2805+11del MANE Select	NP_001175.2:n.2805+8_2805+11del
NM_001354579.2:c.2613+8_2613+11del	NP_001341508.1:n.2613+8_2613+11del