Canonical Allele Identifier: CA2761725022

Gene: KDR

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55110701_55110702insCTAGAAGCTTTGCACAAAATCTAAGGAGAAGGGTCTT , CM000666.2:g.55110701_55110702insCTAGAAGCTTTGCACAAAATCTAAGGAGAAGGGTCTT	GRCh38
NC_000004.11:g.55976868_55976869insCTAGAAGCTTTGCACAAAATCTAAGGAGAAGGGTCTT , CM000666.1:g.55976868_55976869insCTAGAAGCTTTGCACAAAATCTAAGGAGAAGGGTCTT	GRCh37
NC_000004.10:g.55671625_55671626insCTAGAAGCTTTGCACAAAATCTAAGGAGAAGGGTCTT	NCBI36
NG_012004.1:g.19894_19895insAAGACCCTTCTCCTTAGATTTTGTGCAAAGCTTCTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263923.5:c.1043_1044insAAGACCCTTCTCCTTAGATTTTGTGCAAAGCTTCTAG MANE Select	ENSP00000263923.4:p.Ile350ProfsTer11
ENST00000647068.1:n.1056_1057insAAGACCCTTCTCCTTAGATTTTGTGCAAAGCTTCTAG
ENST00000263923.4:c.1043_1044insAAGACCCTTCTCCTTAGATTTTGTGCAAAGCTTCTAG	ENSP00000263923.4:p.Ile350ProfsTer11
ENST00000512566.1:n.1043_1044insAAGACCCTTCTCCTTAGATTTTGTGCAAAGCTTCTAG
NM_002253.2:c.1043_1044insAAGACCCTTCTCCTTAGATTTTGTGCAAAGCTTCTAG	NP_002244.1:p.Ile350ProfsTer11
NM_002253.3:c.1043_1044insAAGACCCTTCTCCTTAGATTTTGTGCAAAGCTTCTAG	NP_002244.1:p.Ile350ProfsTer11
NM_002253.4:c.1043_1044insAAGACCCTTCTCCTTAGATTTTGTGCAAAGCTTCTAG MANE Select	NP_002244.1:p.Ile350ProfsTer11