Canonical Allele Identifier: CA1583216933

Gene: RAD50

Linked Data

• dbSNP Id: rs1750017946

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557324_132557325insGTTTCTA , CM000667.2:g.132557324_132557325insGTTTCTA	GRCh38
NC_000005.9:g.131893016_131893017insGTTTCTA , CM000667.1:g.131893016_131893017insGTTTCTA	GRCh37
NC_000005.8:g.131920915_131920916insGTTTCTA	NCBI36
NG_021151.1:g.5401_5402insGTTTCTA
NG_021151.2:g.5348_5349insGTTTCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.-1_1insGTTTCTA MANE Select	ENSP00000368100.4:p.Met1ValfsTer24
ENST00000638452.2:c.-168-1960_-168-1959insGTTTCTA	ENSP00000492349.2:n.-168-1960_-168-1959insGTTTCTA
ENST00000638504.1:n.207-1960_207-1959insGTTTCTA
ENST00000638568.2:c.-169+851_-169+852insGTTTCTA	ENSP00000491158.2:n.-169+851_-169+852insGTTTCTA
ENST00000639899.1:n.290-1960_290-1959insGTTTCTA
ENST00000640655.2:c.-168-1960_-168-1959insGTTTCTA	ENSP00000491596.2:n.-168-1960_-168-1959insGTTTCTA
ENST00000651160.1:c.-1_1insGTTTCTA	ENSP00000498829.1:p.Met1ValfsTer24
ENST00000651541.1:c.-169+315_-169+316insGTTTCTA	ENSP00000498795.1:n.-169+315_-169+316insGTTTCTA
ENST00000651658.1:n.68_69insGTTTCTA
ENST00000651723.1:c.-1_1insGTTTCTA	ENSP00000498237.1:p.Met1ValfsTer24
ENST00000652016.1:c.-1_1insGTTTCTA	ENSP00000498267.1:p.Met1ValfsTer24
ENST00000652485.1:c.-1_1insGTTTCTA	ENSP00000498973.1:p.Met1ValfsTer24
ENST00000378823.7:c.-1_1insGTTTCTA	ENSP00000368100.4:p.Met1ValfsTer24
ENST00000416135.5:c.-169+851_-169+852insGTTTCTA	ENSP00000389515.1:n.-169+851_-169+852insGTTTCTA
ENST00000423956.5:c.-1_1insGTTTCTA	ENSP00000390971.1:p.Met1ValfsTer24
ENST00000453394.5:c.-1_1insGTTTCTA	ENSP00000400049.1:p.Met1ValfsTer24
ENST00000533482.5:c.-1_1insGTTTCTA	ENSP00000431225.1:p.Met1ValfsTer24
NM_005732.3:c.-1_1insGTTTCTA	NP_005723.2:p.Met1ValfsTer24
NM_005732.4:c.-1_1insGTTTCTA MANE Select	NP_005723.2:p.Met1ValfsTer24