Canonical Allele Identifier: CA2638053347

Gene: RPL27

Linked Data

• gnomAD v4: 17-42998557-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42998559del , CM000679.2:g.42998559del	GRCh38
NC_000017.10:g.41150576del , CM000679.1:g.41150576del	GRCh37
NC_000017.9:g.38404102del	NCBI36
NG_053099.1:g.5287del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.-3+88del MANE Select	ENSP00000253788.5:n.-3+88del
ENST00000589913.6:c.-192del	ENSP00000464813.1:n.-192del
ENST00000253788.9:c.-3+88del	ENSP00000253788.4:n.-3+88del
ENST00000587478.1:n.53+88del
ENST00000588830.1:c.-3+88del	ENSP00000468468.1:n.-3+88del
ENST00000589037.5:c.-3+144del	ENSP00000467587.1:n.-3+144del
ENST00000589913.5:c.-192del	ENSP00000464813.1:n.-192del
ENST00000593262.1:n.141del
NM_000988.3:c.-3+88del	NP_000979.1:n.-3+88del
NM_000988.5:c.-3+88del MANE Select	NP_000979.1:n.-3+88del
NM_001349921.1:c.-3+144del	NP_001336850.1:n.-3+144del
NM_001349922.1:c.-192del	NP_001336851.1:n.-192del
NR_146327.1:n.81+88del
NM_001349921.2:c.-3+144del	NP_001336850.1:n.-3+144del
NM_001349922.2:c.-192del	NP_001336851.1:n.-192del
NR_146327.2:n.53+88del