Canonical Allele Identifier: CA1583241747

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594769_132594772delinsCATG , CM000667.2:g.132594769_132594772delinsCATG	GRCh38
NC_000005.9:g.131930461_131930464delinsCATG , CM000667.1:g.131930461_131930464delinsCATG	GRCh37
NC_000005.8:g.131958360_131958363delinsCATG	NCBI36
NG_021151.1:g.42846_42849delinsCATG
NG_021151.2:g.42793_42796delinsCATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1794-100_1794-97delinsCATG MANE Select	ENSP00000368100.4:n.1794-100_1794-97delinsCATG
ENST00000638452.2:c.1497-100_1497-97delinsCATG	ENSP00000492349.2:n.1497-100_1497-97delinsCATG
ENST00000638504.1:n.1480-335_1480-332delinsCATG
ENST00000638568.2:c.1497-100_1497-97delinsCATG	ENSP00000491158.2:n.1497-100_1497-97delinsCATG
ENST00000639899.1:n.2313-100_2313-97delinsCATG
ENST00000640655.2:c.1497-100_1497-97delinsCATG	ENSP00000491596.2:n.1497-100_1497-97delinsCATG
ENST00000651160.1:c.*16-335_*16-332delinsCATG	ENSP00000498829.1:n.*16-335_*16-332delinsCATG
ENST00000651658.1:n.2336+92_2336+95delinsCATG
ENST00000651723.1:c.*1877-100_*1877-97delinsCATG	ENSP00000498237.1:n.*1877-100_*1877-97delinsCATG
ENST00000652016.1:c.*88+92_*88+95delinsCATG	ENSP00000498267.1:n.*88+92_*88+95delinsCATG
ENST00000652485.1:c.1827-100_1827-97delinsCATG	ENSP00000498973.1:n.1827-100_1827-97delinsCATG
ENST00000378823.7:c.1794-100_1794-97delinsCATG	ENSP00000368100.4:n.1794-100_1794-97delinsCATG
ENST00000423956.5:c.1636-100_1636-97delinsCATG	ENSP00000390971.1:n.1636-100_1636-97delinsCATG
ENST00000453394.5:c.1611-100_1611-97delinsCATG	ENSP00000400049.1:n.1611-100_1611-97delinsCATG
ENST00000533482.5:c.*1420-100_*1420-97delinsCATG	ENSP00000431225.1:n.*1420-100_*1420-97delinsCATG
NM_005732.3:c.1794-100_1794-97delinsCATG	NP_005723.2:n.1794-100_1794-97delinsCATG
NM_005732.4:c.1794-100_1794-97delinsCATG MANE Select	NP_005723.2:n.1794-100_1794-97delinsCATG