Canonical Allele Identifier: CA2668018607

Gene: ATR

Linked Data

• gnomAD v4: 3-142553598-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142553598G>A , CM000665.2:g.142553598G>A	GRCh38
NC_000003.11:g.142272440G>A , CM000665.1:g.142272440G>A	GRCh37
NC_000003.10:g.143755130G>A	NCBI36
NG_008951.1:g.30229C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.2633+42C>T MANE Select	ENSP00000343741.4:n.2633+42C>T
ENST00000515149.3:c.*1407+42C>T	ENSP00000425897.3:n.*1407+42C>T
ENST00000653868.1:n.2662+42C>T
ENST00000656590.1:c.1423+42C>T
ENST00000659195.1:n.5508+42C>T
ENST00000661310.1:c.2441+42C>T	ENSP00000499589.1:n.2441+42C>T
ENST00000350721.8:c.2633+42C>T	ENSP00000343741.4:n.2633+42C>T
NM_001184.3:c.2633+42C>T	NP_001175.2:n.2633+42C>T
XM_011512924.1:c.2633+42C>T	XP_011511226.1:n.2633+42C>T
XM_011512925.1:c.2441+42C>T	XP_011511227.1:n.2441+42C>T
XM_011512926.1:c.2633+42C>T	XP_011511228.1:n.2633+42C>T
XM_011512927.1:c.2633+42C>T	XP_011511229.1:n.2633+42C>T
XR_924147.1:n.2722+42C>T
XR_924148.1:n.2722+42C>T
XR_924149.1:n.2722+42C>T
NM_001354579.1:c.2441+42C>T	NP_001341508.1:n.2441+42C>T
XR_001740179.2:n.2722+42C>T
XR_001740180.2:n.2722+42C>T
XR_001740181.2:n.2722+42C>T
XR_001740182.1:n.2722+42C>T
XR_002959543.1:n.2722+42C>T
XR_924148.2:n.2722+42C>T
NM_001184.4:c.2633+42C>T MANE Select	NP_001175.2:n.2633+42C>T
NM_001354579.2:c.2441+42C>T	NP_001341508.1:n.2441+42C>T