Canonical Allele Identifier: CA1583226908

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579424_132579432delinsATCAAGAAG , CM000667.2:g.132579424_132579432delinsATCAAGAAG	GRCh38
NC_000005.9:g.131915116_131915124delinsATCAAGAAG , CM000667.1:g.131915116_131915124delinsATCAAGAAG	GRCh37
NC_000005.8:g.131943015_131943023delinsATCAAGAAG	NCBI36
NG_021151.1:g.27501_27509delinsATCAAGAAG
NG_021151.2:g.27448_27456delinsATCAAGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.473_481delinsATCAAGAAG MANE Select	ENSP00000368100.4:p.His158=
ENST00000638452.2:c.176_184delinsATCAAGAAG	ENSP00000492349.2:p.His59=
ENST00000638504.1:n.442+3496_442+3504delinsATCAAGAAG
ENST00000638568.2:c.176_184delinsATCAAGAAG	ENSP00000491158.2:p.His59=
ENST00000639899.1:n.633_641delinsATCAAGAAG
ENST00000640655.2:c.176_184delinsATCAAGAAG	ENSP00000491596.2:p.His59=
ENST00000651160.1:c.473_481delinsATCAAGAAG	ENSP00000498829.1:p.His158=
ENST00000651541.1:c.176_184delinsATCAAGAAG	ENSP00000498795.1:p.His59=
ENST00000651658.1:n.541_549delinsATCAAGAAG
ENST00000651723.1:c.*556_*564delinsATCAAGAAG	ENSP00000498237.1:n.*556_*564delinsATCAAGAAG
ENST00000652016.1:c.473_481delinsATCAAGAAG	ENSP00000498267.1:p.His158=
ENST00000652485.1:c.473_481delinsATCAAGAAG	ENSP00000498973.1:p.His158=
ENST00000378823.7:c.473_481delinsATCAAGAAG	ENSP00000368100.4:p.His158=
ENST00000416135.5:c.176_184delinsATCAAGAAG	ENSP00000389515.1:p.His59=
ENST00000423956.5:c.473_481delinsATCAAGAAG	ENSP00000390971.1:p.His158=
ENST00000453394.5:c.473_481delinsATCAAGAAG	ENSP00000400049.1:p.His158=
ENST00000533482.5:c.*99_*107delinsATCAAGAAG	ENSP00000431225.1:n.*99_*107delinsATCAAGAAG
NM_005732.3:c.473_481delinsATCAAGAAG	NP_005723.2:p.His158=
NM_005732.4:c.473_481delinsATCAAGAAG MANE Select	NP_005723.2:p.His158=