Canonical Allele Identifier: CA2336668993

Gene: RPS19

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869334_41869337delinsCAGG , CM000681.2:g.41869334_41869337delinsCAGG	GRCh38
NC_000019.9:g.42373404_42373407delinsCAGG , CM000681.1:g.42373404_42373407delinsCAGG	GRCh37
NC_000019.8:g.47065244_47065247delinsCAGG	NCBI36
NG_007080.2:g.14417_14420delinsCAGG
NG_007080.3:g.14417_14420delinsCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598742.6:c.356+120_356+123delinsCAGG MANE Select	ENSP00000470972.1:n.356+120_356+123delinsCAGG
ENST00000600467.6:c.356+120_356+123delinsCAGG	ENSP00000469228.2:n.356+120_356+123delinsCAGG
ENST00000221975.6:c.134+120_134+123delinsCAGG	ENSP00000221975.2:n.134+120_134+123delinsCAGG
ENST00000593863.5:c.356+120_356+123delinsCAGG	ENSP00000470004.1:n.356+120_356+123delinsCAGG
ENST00000598742.5:c.356+120_356+123delinsCAGG	ENSP00000470972.1:n.356+120_356+123delinsCAGG
NM_001022.3:c.356+120_356+123delinsCAGG	NP_001013.1:n.356+120_356+123delinsCAGG
NM_001321483.1:c.356+120_356+123delinsCAGG	NP_001308412.1:n.356+120_356+123delinsCAGG
NM_001321484.1:c.356+120_356+123delinsCAGG	NP_001308413.1:n.356+120_356+123delinsCAGG
NM_001321485.1:c.369+120_369+123delinsCAGG	NP_001308414.1:n.369+120_369+123delinsCAGG
XM_017027113.2:c.356+120_356+123delinsCAGG	XP_016882602.1:n.356+120_356+123delinsCAGG
NM_001022.4:c.356+120_356+123delinsCAGG MANE Select	NP_001013.1:n.356+120_356+123delinsCAGG
NM_001321483.2:c.356+120_356+123delinsCAGG	NP_001308412.1:n.356+120_356+123delinsCAGG
NM_001321484.2:c.356+120_356+123delinsCAGG	NP_001308413.1:n.356+120_356+123delinsCAGG
NM_001321485.2:c.369+120_369+123delinsCAGG	NP_001308414.1:n.369+120_369+123delinsCAGG