Canonical Allele Identifier: CA2573141518

Gene: MET

Linked Data

• ClinVar Variation Id: 1521529
• ClinVar RCV Id: RCV002033967
• dbSNP Id: rs2116938280

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116759437_116759440del , CM000669.2:g.116759437_116759440del	GRCh38
NC_000007.13:g.116399491_116399494del , CM000669.1:g.116399491_116399494del	GRCh37
NC_000007.12:g.116186727_116186730del	NCBI36
NG_008996.1:g.92033_92036del , LRG_662:g.92033_92036del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422097.2:c.2311_2314del	ENSP00000398776.2:p.Val772ArgfsTer5
ENST00000436117.3:c.2264+817_2264+820del	ENSP00000410980.2:n.2264+817_2264+820del
ENST00000318493.11:c.2365_2368del	ENSP00000317272.6:p.Val790ArgfsTer5
ENST00000397752.8:c.2311_2314del MANE Select	ENSP00000380860.3:p.Val772ArgfsTer5
ENST00000318493.10:c.2365_2368del	ENSP00000317272.6:p.Val790ArgfsTer5
ENST00000397752.7:c.2311_2314del	ENSP00000380860.3:p.Val772ArgfsTer5
ENST00000422097.1:c.151_154del	ENSP00000398776.1:p.Val52ArgfsTer5
ENST00000436117.2:c.2264+817_2264+820del	ENSP00000410980.2:n.2264+817_2264+820del
NM_000245.2:c.2311_2314del	NP_000236.2:p.Val772ArgfsTer5
NM_001127500.1:c.2365_2368del , LRG_662t1:c.2365_2368del	NP_001120972.1:p.Val790ArgfsTer5
XM_006715990.2:c.1021_1024del	XP_006716053.1:p.Val342ArgfsTer5
XM_006715991.2:c.1021_1024del	XP_006716054.1:p.Val342ArgfsTer5
XM_011516223.1:c.2368_2371del	XP_011514525.1:p.Val791ArgfsTer5
NM_000245.3:c.2311_2314del	NP_000236.2:p.Val772ArgfsTer5
NM_001127500.2:c.2365_2368del	NP_001120972.1:p.Val790ArgfsTer5
NM_001324401.1:c.2311_2314del	NP_001311330.1:p.Val772ArgfsTer5
NM_001324402.1:c.1021_1024del	NP_001311331.1:p.Val342ArgfsTer5
XR_001744772.1:n.2495+817_2495+820del
NM_001127500.3:c.2365_2368del	NP_001120972.1:p.Val790ArgfsTer5
NM_000245.4:c.2311_2314del MANE Select	NP_000236.2:p.Val772ArgfsTer5
NM_001324401.2:c.2311_2314del	NP_001311330.1:p.Val772ArgfsTer5
NM_001324402.2:c.1021_1024del	NP_001311331.1:p.Val342ArgfsTer5
NM_001324401.3:c.2311_2314del	NP_001311330.1:p.Val772ArgfsTer5