Canonical Allele Identifier: CA1122160240

Gene: MTAP

Linked Data

• dbSNP Id: rs1824485181
• gnomAD v3: 9-21816737-GA-G
• gnomAD v4: 9-21816737-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21816739del , CM000671.2:g.21816739del	GRCh38
NC_000009.11:g.21816738del , CM000671.1:g.21816738del	GRCh37
NC_000009.10:g.21806738del	NCBI36
NG_032650.1:g.19104del
NG_032650.2:g.19104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404796.3:c.146del	ENSP00000385916.2:p.Lys49ArgfsTer2
ENST00000644715.2:c.146del MANE Select	ENSP00000494373.1:p.Lys49ArgfsTer2
ENST00000380172.8:c.146del	ENSP00000369519.4:p.Lys49ArgfsTer2
ENST00000404796.2:c.146del	ENSP00000385916.2:p.Lys49ArgfsTer2
ENST00000419385.5:c.*18del	ENSP00000393507.1:n.*18del
ENST00000427788.2:n.532del
ENST00000460874.6:c.197del	ENSP00000461932.1:p.Lys66ArgfsTer2
ENST00000579422.5:n.534del
ENST00000580718.1:c.146del	ENSP00000464616.1:p.Lys49ArgfsTer2
ENST00000580900.5:c.146del	ENSP00000463424.1:p.Lys49ArgfsTer2
NM_002451.3:c.146del	NP_002442.2:p.Lys49ArgfsTer2
NM_002451.4:c.146del MANE Select	NP_002442.2:p.Lys49ArgfsTer2
NM_001396040.1:c.197del	NP_001382969.1:p.Lys66ArgfsTer2
NM_001396041.1:c.146del	NP_001382970.1:p.Lys49ArgfsTer2
NM_001396042.1:c.146del	NP_001382971.1:p.Lys49ArgfsTer2
NM_001396043.1:c.146del	NP_001382972.1:p.Lys49ArgfsTer2
NM_001396044.1:c.146del	NP_001382973.1:p.Lys49ArgfsTer2
NM_001396045.1:c.146del	NP_001382974.1:p.Lys49ArgfsTer2
NR_173242.1:n.259del