Canonical Allele Identifier: CA1068725751

Gene: MAML3

Linked Data

• gnomAD v3: 4-139874183-A-ATTATGCAGGAGGAACAATCTTGTCAGAGCCAAGATTGATTTTTTTTAAAAAAATCACCAGTGAAACTT
• gnomAD v4: 4-139874183-A-ATTATGCAGGAGGAACAATCTTGTCAGAGCCAAGATTGATTTTTTTTAAAAAAATCACCAGTGAAACTT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.139874183_139874184insTTATGCAGGAGGAACAATCTTGTCAGAGCCAAGATTGATTTTTTTTAAAAAAATCACCAGTGAAACTT , CM000666.2:g.139874183_139874184insTTATGCAGGAGGAACAATCTTGTCAGAGCCAAGATTGATTTTTTTTAAAAAAATCACCAGTGAAACTT	GRCh38
NC_000004.11:g.140795337_140795338insTTATGCAGGAGGAACAATCTTGTCAGAGCCAAGATTGATTTTTTTTAAAAAAATCACCAGTGAAACTT , CM000666.1:g.140795337_140795338insTTATGCAGGAGGAACAATCTTGTCAGAGCCAAGATTGATTTTTTTTAAAAAAATCACCAGTGAAACTT	GRCh37
NC_000004.10:g.141014787_141014788insTTATGCAGGAGGAACAATCTTGTCAGAGCCAAGATTGATTTTTTTTAAAAAAATCACCAGTGAAACTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502696.1:c.111-143517_111-143516insAAGTTTCACTGGTGATTTTTTTAAAAAAAATCAATCTTGGCTCTGACAAGATTGTTCCTCCTGCATAA
ENST00000509479.6:c.2079+15173_2079+15174insAAGTTTCACTGGTGATTTTTTTAAAAAAAATCAATCTTGGCTCTGACAAGATTGTTCCTCCTGCATAA MANE Select	ENSP00000421180.1:n.2079+15173_2079+15174insAAGTTTCACTGGTGATT...
NM_018717.4:c.2067+15173_2067+15174insAAGTTTCACTGGTGATTTTTTTAAAAAAAATCAATCTTGGCTCTGACAAGATTGTTCCTCCTGCATAA	NP_061187.2:n.2067+15173_2067+15174insAAGTTTCACTGGTGATTTTTTTA...
NM_018717.5:c.2079+15173_2079+15174insAAGTTTCACTGGTGATTTTTTTAAAAAAAATCAATCTTGGCTCTGACAAGATTGTTCCTCCTGCATAA MANE Select	NP_061187.3:n.2079+15173_2079+15174insAAGTTTCACTGGTGATTTTTTTA...