Canonical Allele Identifier: CA3044554917
Community Standard Title: NM_001184.4(ATR):c.7274_7285delinsAAGAATTTCTTT (p.Arg2425Gln)
Gene: ATR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.142459291_142459302delinsAAAGAAATTCTT , CM000665.2:g.142459291_142459302delinsAAAGAAATTCTT GRCh38
NC_000003.11:g.142178133_142178144delinsAAAGAAATTCTT , CM000665.1:g.142178133_142178144delinsAAAGAAATTCTT GRCh37
NC_000003.10:g.143660823_143660834delinsAAAGAAATTCTT NCBI36
NG_008951.1:g.124525_124536delinsAAGAATTTCTTT

Transcript Alleles

HGVS Amino-acid Change
NM_001184.4:c.7274_7285delinsAAGAATTTCTTT MANE Select NP_001175.2:p.Arg2425Gln
ENST00000350721.9:c.7274_7285delinsAAGAATTTCTTT MANE Select ENSP00000343741.4:p.Arg2425Gln
NM_001184.3:c.7274_7285delinsAAGAATTTCTTT NP_001175.2:p.Arg2425Gln
NM_001354579.1:c.7082_7093delinsAAGAATTTCTTT NP_001341508.1:p.Arg2361Gln
NM_001354579.2:c.7082_7093delinsAAGAATTTCTTT NP_001341508.1:p.Arg2361Gln
ENST00000350721.8:c.7274_7285delinsAAGAATTTCTTT ENSP00000343741.4:p.Arg2425Gln
ENST00000513291.1:c.813_824delinsAAGAATTTCTTT
ENST00000513291.2:n.2458_2469delinsAAGAATTTCTTT
ENST00000653893.1:n.2132_2143delinsAAGAATTTCTTT
ENST00000654170.1:n.2117_2128delinsAAGAATTTCTTT
ENST00000656114.1:n.1158_1169delinsAAGAATTTCTTT
ENST00000656590.1:c.6064_6075delinsAAGAATTTCTTT
ENST00000658083.1:n.1115_1126delinsAAGAATTTCTTT
ENST00000661310.1:c.7082_7093delinsAAGAATTTCTTT ENSP00000499589.1:p.Arg2361Gln
ENST00000665483.1:n.3612_3623delinsAAGAATTTCTTT
ENST00000666447.1:n.3777_3788delinsAAGAATTTCTTT
ENST00000666943.1:n.4006_4017delinsAAGAATTTCTTT
XM_011512924.1:c.7280_7291delinsAAGAATTTCTTT XP_011511226.1:p.Arg2427Gln
XM_011512925.1:c.7088_7099delinsAAGAATTTCTTT XP_011511227.1:p.Arg2363Gln
XR_001740179.2:n.7363_7374delinsAAGAATTTCTTT
XR_924147.1:n.7369_7380delinsAAGAATTTCTTT
XR_924148.1:n.7369_7380delinsAAGAATTTCTTT
XR_924148.2:n.7369_7380delinsAAGAATTTCTTT