Canonical Allele Identifier: CA290823681

Gene: RPL27

Linked Data

• dbSNP Id: rs200503635
• gnomAD v2: 17-41151189-T-TC
• gnomAD v3: 17-42999172-T-TC
• gnomAD v4: 17-42999172-T-TC
• MyVariant Identifiers: chr17:g.41151189_41151190insC (hg19) ; chr17:g.42999172_42999173insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42999172_42999173insC , CM000679.2:g.42999172_42999173insC	GRCh38
NC_000017.10:g.41151189_41151190insC , CM000679.1:g.41151189_41151190insC	GRCh37
NC_000017.9:g.38404715_38404716insC	NCBI36
NG_053099.1:g.5900_5901insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.81+341_81+342insC MANE Select	ENSP00000253788.5:n.81+341_81+342insC
ENST00000589913.6:c.81+341_81+342insC	ENSP00000464813.1:n.81+341_81+342insC
ENST00000590864.2:c.82-14_82-13insC	ENSP00000467939.2:n.82-14_82-13insC
ENST00000253788.9:c.81+341_81+342insC	ENSP00000253788.4:n.81+341_81+342insC
ENST00000586277.5:c.104+260_104+261insC
ENST00000587478.1:n.477_478insC
ENST00000588830.1:c.81+341_81+342insC	ENSP00000468468.1:n.81+341_81+342insC
ENST00000589037.5:c.81+341_81+342insC	ENSP00000467587.1:n.81+341_81+342insC
ENST00000589913.5:c.81+341_81+342insC	ENSP00000464813.1:n.81+341_81+342insC
ENST00000593262.1:n.754_755insC
NM_000988.3:c.81+341_81+342insC	NP_000979.1:n.81+341_81+342insC
NM_000988.5:c.81+341_81+342insC MANE Select	NP_000979.1:n.81+341_81+342insC
NM_001349921.1:c.81+341_81+342insC	NP_001336850.1:n.81+341_81+342insC
NM_001349922.1:c.81+341_81+342insC	NP_001336851.1:n.81+341_81+342insC
NR_146327.1:n.164+341_164+342insC
NM_001349921.2:c.81+341_81+342insC	NP_001336850.1:n.81+341_81+342insC
NM_001349922.2:c.81+341_81+342insC	NP_001336851.1:n.81+341_81+342insC
NR_146327.2:n.136+341_136+342insC