Canonical Allele Identifier: CA1583241781
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132594859_132594860delinsCT , CM000667.2:g.132594859_132594860delinsCT GRCh38
NC_000005.9:g.131930551_131930552delinsCT , CM000667.1:g.131930551_131930552delinsCT GRCh37
NC_000005.8:g.131958450_131958451delinsCT NCBI36
NG_021151.1:g.42936_42937delinsCT
NG_021151.2:g.42883_42884delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.1794-10_1794-9delinsCT MANE Select ENSP00000368100.4:n.1794-10_1794-9delinsCT
ENST00000638452.2:c.1497-10_1497-9delinsCT ENSP00000492349.2:n.1497-10_1497-9delinsCT
ENST00000638504.1:n.1480-245_1480-244delinsCT
ENST00000638568.2:c.1497-10_1497-9delinsCT ENSP00000491158.2:n.1497-10_1497-9delinsCT
ENST00000639899.1:n.2313-10_2313-9delinsCT
ENST00000640655.2:c.1497-10_1497-9delinsCT ENSP00000491596.2:n.1497-10_1497-9delinsCT
ENST00000651160.1:c.*16-245_*16-244delinsCT ENSP00000498829.1:n.*16-245_*16-244delinsCT
ENST00000651658.1:n.2337-10_2337-9delinsCT
ENST00000651723.1:c.*1877-10_*1877-9delinsCT ENSP00000498237.1:n.*1877-10_*1877-9delinsCT
ENST00000652016.1:c.*88+182_*88+183delinsCT ENSP00000498267.1:n.*88+182_*88+183delinsCT
ENST00000652485.1:c.1827-10_1827-9delinsCT ENSP00000498973.1:n.1827-10_1827-9delinsCT
ENST00000378823.7:c.1794-10_1794-9delinsCT ENSP00000368100.4:n.1794-10_1794-9delinsCT
ENST00000423956.5:c.1636-10_1636-9delinsCT ENSP00000390971.1:n.1636-10_1636-9delinsCT
ENST00000453394.5:c.1611-10_1611-9delinsCT ENSP00000400049.1:n.1611-10_1611-9delinsCT
ENST00000533482.5:c.*1420-10_*1420-9delinsCT ENSP00000431225.1:n.*1420-10_*1420-9delinsCT
NM_005732.3:c.1794-10_1794-9delinsCT NP_005723.2:n.1794-10_1794-9delinsCT
NM_005732.4:c.1794-10_1794-9delinsCT MANE Select NP_005723.2:n.1794-10_1794-9delinsCT