Canonical Allele Identifier: CA199765
Community Standard Title: NM_000964.4(RARA):c.1226_*1del
Gene: RARA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40356063_40356227del , CM000679.2:g.40356063_40356227del GRCh38
NC_000017.10:g.38512315_38512479del , CM000679.1:g.38512315_38512479del GRCh37
NC_000017.9:g.35765841_35766005del NCBI36
NG_027701.1:g.51893_52057del

Transcript Alleles

HGVS Amino-acid Change
NM_000964.4:c.1226_*1del MANE Select NP_000955.1:n.[c.1226_*1del;Leu409ProfsTer24]
ENST00000254066.10:c.1226_*1del MANE Select ENSP00000254066.5:n.[c.1226_*1del;Leu409ProfsTer24]
NM_000964.3:c.1226_*1del NP_000955.1:n.[c.1226_*1del;Leu409ProfsTer24]
NM_001024809.3:c.1211_*1del NP_001019980.1:n.[c.1211_*1del;Leu404ProfsTer24]
NM_001024809.4:c.1211_*1del NP_001019980.1:n.[c.1211_*1del;Leu404ProfsTer24]
NM_001145301.2:c.1226_*1del NP_001138773.1:n.[c.1226_*1del;Leu409ProfsTer24]
NM_001145301.3:c.1226_*1del NP_001138773.1:n.[c.1226_*1del;Leu409ProfsTer24]
NM_001145302.2:c.935_*1del NP_001138774.1:n.[c.935_*1del;Leu312ProfsTer24]
NM_001145302.3:c.935_*1del NP_001138774.1:n.[c.935_*1del;Leu312ProfsTer24]
ENST00000254066.9:c.1226_*1del ENSP00000254066.5:n.[c.1226_*1del;Leu409ProfsTer24]
ENST00000394081.7:c.1211_*1del ENSP00000377643.3:n.[c.1211_*1del;Leu404ProfsTer24]
ENST00000394086.7:c.1274_*1del ENSP00000377648.3:n.[c.1274_*1del;Leu425ProfsTer24]
ENST00000394089.6:c.1226_*1del ENSP00000377649.2:n.[c.1226_*1del;Leu409ProfsTer24]
ENST00000425707.7:c.935_*1del ENSP00000389993.3:n.[c.935_*1del;Leu312ProfsTer24]
XM_005257552.3:c.1274_*1del XP_005257609.1:n.[c.1274_*1del;Leu425ProfsTer24]
XM_005257552.5:c.1274_*1del XP_005257609.1:n.[c.1274_*1del;Leu425ProfsTer24]
XM_005257553.1:c.1226_*1del XP_005257610.1:n.[c.1226_*1del;Leu409ProfsTer24]
XM_005257554.1:c.1226_*1del XP_005257611.1:n.[c.1226_*1del;Leu409ProfsTer24]
XM_011525095.1:c.1226_*1del XP_011523397.1:n.[c.1226_*1del;Leu409ProfsTer24]
XM_011525096.1:c.1052_*1del XP_011523398.1:n.[c.1052_*1del;Leu351ProfsTer24]
XM_017024920.2:c.869_*1del XP_016880409.1:n.[c.869_*1del;Leu290ProfsTer24]