Canonical Allele Identifier: CA2668019557

Gene: ATR

Linked Data

• gnomAD v4: 3-142549397-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142549400_142549401del , CM000665.2:g.142549400_142549401del	GRCh38
NC_000003.11:g.142268242_142268243del , CM000665.1:g.142268242_142268243del	GRCh37
NC_000003.10:g.143750932_143750933del	NCBI36
NG_008951.1:g.34428_34429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.3171+80_3171+81del MANE Select	ENSP00000343741.4:n.3171+80_3171+81del
ENST00000515149.3:c.*1945+80_*1945+81del	ENSP00000425897.3:n.*1945+80_*1945+81del
ENST00000653868.1:n.3200+80_3200+81del
ENST00000656582.1:n.430+80_430+81del
ENST00000656590.1:c.1961+80_1961+81del
ENST00000661310.1:c.2979+80_2979+81del	ENSP00000499589.1:n.2979+80_2979+81del
ENST00000350721.8:c.3171+80_3171+81del	ENSP00000343741.4:n.3171+80_3171+81del
NM_001184.3:c.3171+80_3171+81del	NP_001175.2:n.3171+80_3171+81del
XM_011512924.1:c.3171+80_3171+81del	XP_011511226.1:n.3171+80_3171+81del
XM_011512925.1:c.2979+80_2979+81del	XP_011511227.1:n.2979+80_2979+81del
XM_011512926.1:c.3171+80_3171+81del	XP_011511228.1:n.3171+80_3171+81del
XM_011512927.1:c.3171+80_3171+81del	XP_011511229.1:n.3171+80_3171+81del
XR_924147.1:n.3260+80_3260+81del
XR_924148.1:n.3260+80_3260+81del
XR_924149.1:n.3260+80_3260+81del
NM_001354579.1:c.2979+80_2979+81del	NP_001341508.1:n.2979+80_2979+81del
XR_001740179.2:n.3260+80_3260+81del
XR_001740180.2:n.3260+80_3260+81del
XR_001740181.2:n.3260+80_3260+81del
XR_001740182.1:n.3260+80_3260+81del
XR_002959543.1:n.3260+80_3260+81del
XR_924148.2:n.3260+80_3260+81del
NM_001184.4:c.3171+80_3171+81del MANE Select	NP_001175.2:n.3171+80_3171+81del
NM_001354579.2:c.2979+80_2979+81del	NP_001341508.1:n.2979+80_2979+81del