Canonical Allele Identifier: CA1123806

Gene: RPS27

Linked Data

• dbSNP Id: rs768886545
• ExAC: 1:153963289 TGGTCCAG / T
• MyVariant Identifiers: chr1:g.153963290_153963296del (hg19) ; chr1:g.153990814_153990820del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153990815_153990821del , CM000663.2:g.153990815_153990821del	GRCh38
NC_000001.10:g.153963291_153963297del , CM000663.1:g.153963291_153963297del	GRCh37
NC_000001.9:g.152229915_152229921del	NCBI36
NG_053102.2:g.5061_5067del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643794.1:c.6+13_6+19del	ENSP00000495765.1:n.6+13_6+19del
ENST00000651669.1:c.6+13_6+19del MANE Select	ENSP00000499044.1:n.6+13_6+19del
ENST00000368567.4:c.6+13_6+19del	ENSP00000357555.4:n.6+13_6+19del
ENST00000392558.4:c.6+13_6+19del	ENSP00000376341.4:n.6+13_6+19del
ENST00000477151.1:n.40+13_40+19del
ENST00000493224.5:n.53_59del
NM_001030.4:c.6+13_6+19del	NP_001021.1:n.6+13_6+19del
NM_001030.6:c.6+13_6+19del MANE Select	NP_001021.1:n.6+13_6+19del
NM_001349946.1:c.-212+13_-212+19del	NP_001336875.1:n.-212+13_-212+19del
NM_001349947.1:c.-310_-304del	NP_001336876.1:n.-310_-304del
NM_001349946.2:c.-212+13_-212+19del	NP_001336875.1:n.-212+13_-212+19del
NM_001349947.2:c.-310_-304del	NP_001336876.1:n.-310_-304del