Canonical Allele Identifier: CA2480680511

Gene: RPS27

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153991343_153991355delinsGAAAATATTTTCC , CM000663.2:g.153991343_153991355delinsGAAAATATTTTCC	GRCh38
NC_000001.10:g.153963819_153963831delinsGAAAATATTTTCC , CM000663.1:g.153963819_153963831delinsGAAAATATTTTCC	GRCh37
NC_000001.9:g.152230443_152230455delinsGAAAATATTTTCC	NCBI36
NG_053102.2:g.5589_5601delinsGAAAATATTTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477151.2:n.303+120_303+132delinsGAAAATATTTTCC
ENST00000643794.1:c.236+120_236+132delinsGAAAATATTTTCC	ENSP00000495765.1:n.236+120_236+132delinsGAAAATATTTTCC
ENST00000651669.1:c.115+120_115+132delinsGAAAATATTTTCC MANE Select	ENSP00000499044.1:n.115+120_115+132delinsGAAAATATTTTCC
ENST00000368567.4:c.115+120_115+132delinsGAAAATATTTTCC	ENSP00000357555.4:n.115+120_115+132delinsGAAAATATTTTCC
ENST00000392558.4:c.*34_*46delinsGAAAATATTTTCC	ENSP00000376341.4:n.*34_*46delinsGAAAATATTTTCC
ENST00000477151.1:n.270+120_270+132delinsGAAAATATTTTCC
ENST00000493224.5:n.381+120_381+132delinsGAAAATATTTTCC
NM_001030.4:c.115+120_115+132delinsGAAAATATTTTCC	NP_001021.1:n.115+120_115+132delinsGAAAATATTTTCC
NM_001030.6:c.115+120_115+132delinsGAAAATATTTTCC MANE Select	NP_001021.1:n.115+120_115+132delinsGAAAATATTTTCC
NM_001349946.1:c.19+120_19+132delinsGAAAATATTTTCC	NP_001336875.1:n.19+120_19+132delinsGAAAATATTTTCC
NM_001349947.1:c.19+120_19+132delinsGAAAATATTTTCC	NP_001336876.1:n.19+120_19+132delinsGAAAATATTTTCC
NM_001349946.2:c.19+120_19+132delinsGAAAATATTTTCC	NP_001336875.1:n.19+120_19+132delinsGAAAATATTTTCC
NM_001349947.2:c.19+120_19+132delinsGAAAATATTTTCC	NP_001336876.1:n.19+120_19+132delinsGAAAATATTTTCC