Canonical Allele Identifier: CA2684591313

Gene: MET

Linked Data

• gnomAD v4: 7-116759415-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116759418dup , CM000669.2:g.116759418dup	GRCh38
NC_000007.13:g.116399472dup , CM000669.1:g.116399472dup	GRCh37
NC_000007.12:g.116186708dup	NCBI36
NG_008996.1:g.92014dup , LRG_662:g.92014dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422097.2:c.2292dup	ENSP00000398776.2:p.Lys765GlufsTer7
ENST00000436117.3:c.2264+798dup	ENSP00000410980.2:n.2264+798dup
ENST00000318493.11:c.2346dup	ENSP00000317272.6:p.Lys783GlufsTer7
ENST00000397752.8:c.2292dup MANE Select	ENSP00000380860.3:p.Lys765GlufsTer7
ENST00000318493.10:c.2346dup	ENSP00000317272.6:p.Lys783GlufsTer7
ENST00000397752.7:c.2292dup	ENSP00000380860.3:p.Lys765GlufsTer7
ENST00000422097.1:c.132dup	ENSP00000398776.1:p.Lys45GlufsTer7
ENST00000436117.2:c.2264+798dup	ENSP00000410980.2:n.2264+798dup
NM_000245.2:c.2292dup	NP_000236.2:p.Lys765GlufsTer7
NM_001127500.1:c.2346dup , LRG_662t1:c.2346dup	NP_001120972.1:p.Lys783GlufsTer7
XM_006715990.2:c.1002dup	XP_006716053.1:p.Lys335GlufsTer7
XM_006715991.2:c.1002dup	XP_006716054.1:p.Lys335GlufsTer7
XM_011516223.1:c.2349dup	XP_011514525.1:p.Lys784GlufsTer7
NM_000245.3:c.2292dup	NP_000236.2:p.Lys765GlufsTer7
NM_001127500.2:c.2346dup	NP_001120972.1:p.Lys783GlufsTer7
NM_001324401.1:c.2292dup	NP_001311330.1:p.Lys765GlufsTer7
NM_001324402.1:c.1002dup	NP_001311331.1:p.Lys335GlufsTer7
XR_001744772.1:n.2495+798dup
NM_001127500.3:c.2346dup	NP_001120972.1:p.Lys783GlufsTer7
NM_000245.4:c.2292dup MANE Select	NP_000236.2:p.Lys765GlufsTer7
NM_001324401.2:c.2292dup	NP_001311330.1:p.Lys765GlufsTer7
NM_001324402.2:c.1002dup	NP_001311331.1:p.Lys335GlufsTer7
NM_001324401.3:c.2292dup	NP_001311330.1:p.Lys765GlufsTer7