Canonical Allele Identifier: CA2376379
Community Standard Title: NM_130384.3(ATRIP):c.2056-9dup
Gene: ATRIP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48464822dup , CM000665.2:g.48464822dup GRCh38
NC_000003.11:g.48506221dup , CM000665.1:g.48506221dup GRCh37
NC_000003.10:g.48481225dup NCBI36
NG_009820.1:g.3993dup
NG_041782.1:g.23113dup
NG_009820.2:g.3993dup

Transcript Alleles

HGVS Amino-acid Change
NM_130384.3:c.2056-9dup MANE Select NP_569055.1:n.2056-9dup
ENST00000320211.10:c.2056-9dup MANE Select ENSP00000323099.3:n.2056-9dup
NM_001271022.1:c.1675-9dup NP_001257951.1:n.1675-9dup
NM_001271022.2:c.1675-9dup NP_001257951.1:n.1675-9dup
NM_001271023.1:c.1777-9dup NP_001257952.1:n.1777-9dup
NM_001271023.2:c.1777-9dup NP_001257952.1:n.1777-9dup
NM_032166.3:c.1975-9dup NP_115542.2:n.1975-9dup
NM_032166.4:c.1975-9dup NP_115542.2:n.1975-9dup
NM_130384.2:c.2056-9dup NP_569055.1:n.2056-9dup
NR_153405.1:n.2208-9dup
ENST00000320211.8:c.2056-9dup ENSP00000323099.3:n.2056-9dup
ENST00000346691.9:c.1975-9dup ENSP00000302338.5:n.1975-9dup
ENST00000357105.10:c.1675-9dup ENSP00000349620.6:n.1675-9dup
ENST00000412052.4:c.1777-9dup ENSP00000400930.1:n.1777-9dup
ENST00000634384.1:c.*1719-9dup ENSP00000489041.1:n.*1719-9dup
ENST00000634384.2:c.1494-9dup
ENST00000635464.1:c.1852-9dup ENSP00000489199.1:n.1852-9dup
ENST00000639561.1:c.*1719-9dup ENSP00000491983.1:n.*1719-9dup