Canonical Allele Identifier: CA645529133
Community Standard Title: NM_032638.5(GATA2):c.915_916del (p.Trp306AlafsTer?)
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128483965_128483966del , CM000665.2:g.128483965_128483966del GRCh38
NC_000003.11:g.128202808_128202809del , CM000665.1:g.128202808_128202809del GRCh37
NC_000003.10:g.129685498_129685499del NCBI36
NG_029334.1:g.14226_14227del , LRG_295:g.14226_14227del

Transcript Alleles

HGVS Amino-acid Change
NM_032638.5:c.915_916del MANE Select NP_116027.2:p.Trp306AlafsTer?
ENST00000341105.7:c.915_916del MANE Select ENSP00000345681.2:p.Trp306AlafsTer?
NM_001145661.2:c.915_916del MANE Plus Clinical NP_001139133.1:p.Trp306AlafsTer?
ENST00000487848.6:c.915_916del MANE Plus Clinical ENSP00000417074.1:p.Trp306AlafsTer?
NM_001145661.1:c.915_916del , LRG_295t1:c.915_916del NP_001139133.1:p.Trp306AlafsTer?
NM_001145662.1:c.915_916del NP_001139134.1:p.Trp306AlafsTer?
NM_032638.4:c.915_916del , LRG_295t2:c.915_916del NP_116027.2:p.Trp306AlafsTer?
ENST00000341105.6:c.915_916del ENSP00000345681.2:p.Trp306AlafsTer?
ENST00000430265.6:c.915_916del ENSP00000400259.2:p.Trp306AlafsTer?
ENST00000487848.5:c.915_916del ENSP00000417074.1:p.Trp306AlafsTer?
ENST00000696466.1:c.1197_1198del ENSP00000512647.1:p.Trp400AlafsTer?