Canonical Allele Identifier: CA1054353939

Gene: ATR

Linked Data

• dbSNP Id: rs2071222878
• gnomAD v3: 3-142470007-T-TCCA
• gnomAD v4: 3-142470007-T-TCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142470007_142470008insCCA , CM000665.2:g.142470007_142470008insCCA	GRCh38
NC_000003.11:g.142188849_142188850insCCA , CM000665.1:g.142188849_142188850insCCA	GRCh37
NC_000003.10:g.143671539_143671540insCCA	NCBI36
NG_008951.1:g.113819_113820insTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000350721.9:c.6319+78_6319+79insTGG MANE Select	ENSP00000343741.4:n.6319+78_6319+79insTGG...
ENST00000513291.2:n.1503+78_1503+79insTGG
ENST00000654170.1:n.1162+78_1162+79insTGG
ENST00000656590.1:c.5109+78_5109+79insTGG
ENST00000661310.1:c.6127+78_6127+79insTGG	ENSP00000499589.1:n.6127+78_6127+79insTGG...
ENST00000665483.1:n.174+78_174+79insTGG
ENST00000666447.1:n.154+78_154+79insTGG
ENST00000666943.1:n.1783+78_1783+79insTGG
ENST00000350721.8:c.6319+78_6319+79insTGG	ENSP00000343741.4:n.6319+78_6319+79insTGG...
NM_001184.3:c.6319+78_6319+79insTGG	NP_001175.2:n.6319+78_6319+79insTGG
XM_011512924.1:c.6325+78_6325+79insTGG	XP_011511226.1:n.6325+78_6325+79insTGG
XM_011512925.1:c.6133+78_6133+79insTGG	XP_011511227.1:n.6133+78_6133+79insTGG
XR_924147.1:n.6414+78_6414+79insTGG
XR_924148.1:n.6414+78_6414+79insTGG
XR_924149.1:n.6293+78_6293+79insTGG
NM_001354579.1:c.6127+78_6127+79insTGG	NP_001341508.1:n.6127+78_6127+79insTGG
XR_001740179.2:n.6408+78_6408+79insTGG
XR_001740180.2:n.6462+78_6462+79insTGG
XR_001740181.2:n.6341+78_6341+79insTGG
XR_001740182.1:n.6293+78_6293+79insTGG
XR_002959543.1:n.6518+78_6518+79insTGG
XR_924148.2:n.6414+78_6414+79insTGG
NM_001184.4:c.6319+78_6319+79insTGG MANE Select	NP_001175.2:n.6319+78_6319+79insTGG
NM_001354579.2:c.6127+78_6127+79insTGG	NP_001341508.1:n.6127+78_6127+79insTGG