Canonical Allele Identifier: CA7673881
Community Standard Title: NM_000126.4(ETFA):c.40-51_40-50del
Gene: ETFA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.76295802_76295803del , CM000677.2:g.76295802_76295803del GRCh38
NC_000015.9:g.76588143_76588144del , CM000677.1:g.76588143_76588144del GRCh37
NC_000015.8:g.74375198_74375199del NCBI36
NG_007077.2:g.20682_20683del

Transcript Alleles

HGVS Amino-acid Change
NM_000126.4:c.40-51_40-50del MANE Select NP_000117.1:n.40-51_40-50del
ENST00000557943.6:c.40-51_40-50del MANE Select ENSP00000452762.1:n.40-51_40-50del
NM_000126.3:c.40-51_40-50del NP_000117.1:n.40-51_40-50del
NM_001127716.1:c.40-3088_40-3087del NP_001121188.1:n.40-3088_40-3087del
NM_001127716.2:c.40-3088_40-3087del NP_001121188.1:n.40-3088_40-3087del
ENST00000267950.12:c.40-51_40-50del ENSP00000267950.8:n.40-51_40-50del
ENST00000433983.6:c.40-3088_40-3087del ENSP00000399273.2:n.40-3088_40-3087del
ENST00000557943.5:c.40-51_40-50del ENSP00000452762.1:n.40-51_40-50del
ENST00000559075.5:n.64-51_64-50del
ENST00000559386.1:c.40-51_40-50del ENSP00000452777.1:n.40-51_40-50del
ENST00000559386.2:c.40-51_40-50del ENSP00000452777.2:n.40-51_40-50del
ENST00000559602.5:c.40-7843_40-7842del ENSP00000452659.1:n.40-7843_40-7842del
ENST00000560044.5:c.*35-51_*35-50del ENSP00000452942.1:n.*35-51_*35-50del
ENST00000560044.6:c.*35-51_*35-50del ENSP00000452942.1:n.*35-51_*35-50del
ENST00000560309.5:c.*35-51_*35-50del ENSP00000453753.1:n.*35-51_*35-50del
ENST00000560595.5:c.40-51_40-50del ENSP00000453345.1:n.40-51_40-50del
ENST00000560595.6:c.40-51_40-50del ENSP00000453345.2:n.40-51_40-50del
ENST00000560726.5:c.-512-3275_-512-3274del ENSP00000453098.1:n.-512-3275_-512-3274del
ENST00000560899.5:c.-512-3275_-512-3274del ENSP00000453422.1:n.-512-3275_-512-3274del
ENST00000561092.1:n.54-51_54-50del
ENST00000565910.6:c.40-51_40-50del ENSP00000458001.2:n.40-51_40-50del
ENST00000685118.1:c.*35-51_*35-50del ENSP00000509473.1:n.*35-51_*35-50del
ENST00000685548.1:c.40-51_40-50del ENSP00000510343.1:n.40-51_40-50del
ENST00000685863.1:c.40-3088_40-3087del ENSP00000509361.1:n.40-3088_40-3087del
ENST00000687293.1:c.40-51_40-50del ENSP00000509928.1:n.40-51_40-50del
ENST00000687975.1:c.40-51_40-50del ENSP00000508690.1:n.40-51_40-50del
ENST00000688154.1:c.40-51_40-50del ENSP00000510637.1:n.40-51_40-50del
ENST00000688389.1:c.40-51_40-50del ENSP00000510491.1:n.40-51_40-50del
ENST00000688637.1:n.121-51_121-50del
ENST00000688908.1:c.40-3088_40-3087del ENSP00000510242.1:n.40-3088_40-3087del
ENST00000689730.1:c.40-51_40-50del ENSP00000510006.1:n.40-51_40-50del
ENST00000689739.1:n.121-51_121-50del
ENST00000690610.1:c.40-51_40-50del ENSP00000510473.1:n.40-51_40-50del
ENST00000691021.1:c.*35-51_*35-50del ENSP00000510805.1:n.*35-51_*35-50del
ENST00000691695.1:c.40-3088_40-3087del ENSP00000509402.1:n.40-3088_40-3087del
ENST00000692691.1:c.40-51_40-50del ENSP00000508808.1:n.40-51_40-50del
ENST00000693064.1:c.*15-51_*15-50del ENSP00000510720.1:n.*15-51_*15-50del
XR_931766.1:n.95-51_95-50del
XR_931766.3:n.121-51_121-50del