Canonical Allele Identifier: CA2684591934

Gene: MET

Linked Data

• gnomAD v4: 7-116772048-C-CTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116772048_116772049insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA , CM000669.2:g.116772048_116772049insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA	GRCh38
NC_000007.13:g.116412102_116412103insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA , CM000669.1:g.116412102_116412103insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA	GRCh37
NC_000007.12:g.116199338_116199339insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA	NCBI36
NG_008996.1:g.104644_104645insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA , LRG_662:g.104644_104645insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436117.3:c.*633+59_*633+60insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA	ENSP00000410980.2:n.*633+59_*633+60insTGAATCATGAGATCAGAGTTGGA...
ENST00000318493.11:c.3082+59_3082+60insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA	ENSP00000317272.6:n.3082+59_3082+60insTGAATCATGAGATCAGAGTTGGA...
ENST00000397752.8:c.3028+59_3028+60insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA MANE Select	ENSP00000380860.3:n.3028+59_3028+60insTGAATCATGAGATCAGAGTTGGA...
ENST00000318493.10:c.3082+59_3082+60insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA	ENSP00000317272.6:n.3082+59_3082+60insTGAATCATGAGATCAGAGTTGGA...
ENST00000397752.7:c.3028+59_3028+60insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA	ENSP00000380860.3:n.3028+59_3028+60insTGAATCATGAGATCAGAGTTGGA...
ENST00000454623.1:c.283+394_283+395insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA	ENSP00000398140.1:n.283+394_283+395insTGAATCATGAGATCAGAGTTGGA...
NM_000245.2:c.3028+59_3028+60insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA	NP_000236.2:n.3028+59_3028+60insTGAATCATGAGATCAGAGTTGGAATTTCA...
NM_001127500.1:c.3082+59_3082+60insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA , LRG_662t1:c.3082+59_3082+60insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA	NP_001120972.1:n.3082+59_3082+60insTGAATCATGAGATCAGAGTTGGAATT...
XM_006715990.2:c.1738+59_1738+60insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA	XP_006716053.1:n.1738+59_1738+60insTGAATCATGAGATCAGAGTTGGAATT...
XM_006715991.2:c.1738+59_1738+60insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA	XP_006716054.1:n.1738+59_1738+60insTGAATCATGAGATCAGAGTTGGAATT...
XM_011516223.1:c.3085+59_3085+60insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA	XP_011514525.1:n.3085+59_3085+60insTGAATCATGAGATCAGAGTTGGAATT...
NM_000245.3:c.3028+59_3028+60insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA	NP_000236.2:n.3028+59_3028+60insTGAATCATGAGATCAGAGTTGGAATTTCA...
NM_001127500.2:c.3082+59_3082+60insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA	NP_001120972.1:n.3082+59_3082+60insTGAATCATGAGATCAGAGTTGGAATT...
NM_001324402.1:c.1738+59_1738+60insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA	NP_001311331.1:n.1738+59_1738+60insTGAATCATGAGATCAGAGTTGGAATT...
XR_001744772.1:n.3159+59_3159+60insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA
NM_001127500.3:c.3082+59_3082+60insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA	NP_001120972.1:n.3082+59_3082+60insTGAATCATGAGATCAGAGTTGGAATT...
NM_000245.4:c.3028+59_3028+60insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA MANE Select	NP_000236.2:n.3028+59_3028+60insTGAATCATGAGATCAGAGTTGGAATTTCA...
NM_001324402.2:c.1738+59_1738+60insTGAATCATGAGATCAGAGTTGGAATTTCAGAAGGACCATAAATCCTAAAAATCATAAA	NP_001311331.1:n.1738+59_1738+60insTGAATCATGAGATCAGAGTTGGAATT...