Canonical Allele Identifier: CA4448609

Gene: MET

Linked Data

• ClinVar Variation Id: 1614334
• ClinVar RCV Id: RCV002075884
• dbSNP Id: rs747887276
• ExAC: 7:116411879 CTCTT / C
• gnomAD v2: 7-116411879-CTCTT-C
• gnomAD v3: 7-116771825-CTCTT-C
• gnomAD v4: 7-116771825-CTCTT-C
• MyVariant Identifiers: chr7:g.116411880_116411883del (hg19) ; chr7:g.116771826_116771829del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116771833_116771836del , CM000669.2:g.116771833_116771836del	GRCh38
NC_000007.13:g.116411887_116411890del , CM000669.1:g.116411887_116411890del	GRCh37
NC_000007.12:g.116199123_116199126del	NCBI36
NG_008996.1:g.104429_104432del , LRG_662:g.104429_104432del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436117.3:c.*493-16_*493-13del	ENSP00000410980.2:n.*493-16_*493-13del
ENST00000318493.11:c.2942-16_2942-13del	ENSP00000317272.6:n.2942-16_2942-13del
ENST00000397752.8:c.2888-16_2888-13del MANE Select	ENSP00000380860.3:n.2888-16_2888-13del
ENST00000318493.10:c.2942-16_2942-13del	ENSP00000317272.6:n.2942-16_2942-13del
ENST00000397752.7:c.2888-16_2888-13del	ENSP00000380860.3:n.2888-16_2888-13del
ENST00000454623.1:c.283+179_283+182del	ENSP00000398140.1:n.283+179_283+182del
NM_000245.2:c.2888-16_2888-13del	NP_000236.2:n.2888-16_2888-13del
NM_001127500.1:c.2942-16_2942-13del , LRG_662t1:c.2942-16_2942-13del	NP_001120972.1:n.2942-16_2942-13del
XM_006715990.2:c.1598-16_1598-13del	XP_006716053.1:n.1598-16_1598-13del
XM_006715991.2:c.1598-16_1598-13del	XP_006716054.1:n.1598-16_1598-13del
XM_011516223.1:c.2945-16_2945-13del	XP_011514525.1:n.2945-16_2945-13del
NM_000245.3:c.2888-16_2888-13del	NP_000236.2:n.2888-16_2888-13del
NM_001127500.2:c.2942-16_2942-13del	NP_001120972.1:n.2942-16_2942-13del
NM_001324402.1:c.1598-16_1598-13del	NP_001311331.1:n.1598-16_1598-13del
XR_001744772.1:n.3019-16_3019-13del
NM_001127500.3:c.2942-16_2942-13del	NP_001120972.1:n.2942-16_2942-13del
NM_000245.4:c.2888-16_2888-13del MANE Select	NP_000236.2:n.2888-16_2888-13del
NM_001324402.2:c.1598-16_1598-13del	NP_001311331.1:n.1598-16_1598-13del