Canonical Allele Identifier: CA2695228829

Gene: RPS19

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869186del , CM000681.2:g.41869186del	GRCh38
NC_000019.9:g.42373256del , CM000681.1:g.42373256del	GRCh37
NC_000019.8:g.47065096del	NCBI36
NG_007080.2:g.14269del
NG_007080.3:g.14269del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598742.6:c.328del MANE Select	ENSP00000470972.1:p.Leu110Ter
ENST00000600467.6:c.328del	ENSP00000469228.2:p.Leu110Ter
ENST00000221975.6:c.106del	ENSP00000221975.2:p.Leu36Ter
ENST00000593863.5:c.328del	ENSP00000470004.1:p.Leu110Ter
ENST00000598399.1:c.1166del	ENSP00000472660.1:n.1166del
ENST00000598742.5:c.328del	ENSP00000470972.1:p.Leu110Ter
NM_001022.3:c.328del	NP_001013.1:p.Leu110Ter
NM_001321483.1:c.328del	NP_001308412.1:p.Leu110Ter
NM_001321484.1:c.328del	NP_001308413.1:p.Leu110Ter
NM_001321485.1:c.341del	NP_001308414.1:p.Ala114ValfsTer?
XM_017027113.2:c.328del	XP_016882602.1:p.Leu110Ter
NM_001022.4:c.328del MANE Select	NP_001013.1:p.Leu110Ter
NM_001321483.2:c.328del	NP_001308412.1:p.Leu110Ter
NM_001321484.2:c.328del	NP_001308413.1:p.Leu110Ter
NM_001321485.2:c.341del	NP_001308414.1:p.Ala114ValfsTer?