Canonical Allele Identifier: CA1302270806

Gene: RBMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.160357950_160357952delinsCAA , CM000664.2:g.160357950_160357952delinsCAA	GRCh38
NC_000002.11:g.161214461_161214463delinsCAA , CM000664.1:g.161214461_161214463delinsCAA	GRCh37
NC_000002.10:g.160922707_160922709delinsCAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348849.8:c.251+9264_251+9266delinsTTG MANE Select	ENSP00000294904.6:n.251+9264_251+9266delinsTTG
ENST00000348849.7:c.251+9264_251+9266delinsTTG	ENSP00000294904.6:n.251+9264_251+9266delinsTTG
ENST00000392753.7:c.191+9264_191+9266delinsTTG	ENSP00000376508.4:n.191+9264_191+9266delinsTTG
ENST00000409075.5:c.152+9264_152+9266delinsTTG	ENSP00000386347.1:n.152+9264_152+9266delinsTTG
ENST00000409289.6:c.152+9264_152+9266delinsTTG	ENSP00000386571.2:n.152+9264_152+9266delinsTTG
ENST00000409972.5:c.152+9264_152+9266delinsTTG	ENSP00000387280.1:n.152+9264_152+9266delinsTTG
ENST00000428519.1:c.152+9264_152+9266delinsTTG	ENSP00000389016.1:n.152+9264_152+9266delinsTTG
ENST00000474820.5:n.377+9264_377+9266delinsTTG
ENST00000491781.5:n.370+9264_370+9266delinsTTG
NM_002897.4:c.251+9264_251+9266delinsTTG	NP_002888.1:n.251+9264_251+9266delinsTTG
NM_016836.3:c.251+9264_251+9266delinsTTG	NP_058520.1:n.251+9264_251+9266delinsTTG
XM_005246737.1:c.251+9264_251+9266delinsTTG	XP_005246794.1:n.251+9264_251+9266delinsTTG
XM_005246738.2:c.248+9264_248+9266delinsTTG	XP_005246795.1:n.248+9264_248+9266delinsTTG
XM_005246739.2:c.245+9264_245+9266delinsTTG	XP_005246796.1:n.245+9264_245+9266delinsTTG
XM_005246740.1:c.251+9264_251+9266delinsTTG	XP_005246797.1:n.251+9264_251+9266delinsTTG
XM_005246741.3:c.242+9264_242+9266delinsTTG	XP_005246798.1:n.242+9264_242+9266delinsTTG
XM_006712671.2:c.257+9264_257+9266delinsTTG	XP_006712734.1:n.257+9264_257+9266delinsTTG
XM_006712672.2:c.257+9264_257+9266delinsTTG	XP_006712735.1:n.257+9264_257+9266delinsTTG
XM_006712673.2:c.257+9264_257+9266delinsTTG	XP_006712736.1:n.257+9264_257+9266delinsTTG
XM_006712674.2:c.257+9264_257+9266delinsTTG	XP_006712737.1:n.257+9264_257+9266delinsTTG
XM_005246738.3:c.248+9264_248+9266delinsTTG	XP_005246795.1:n.248+9264_248+9266delinsTTG
XM_017004626.2:c.248+9264_248+9266delinsTTG	XP_016860115.1:n.248+9264_248+9266delinsTTG
XM_024453032.1:c.248+9264_248+9266delinsTTG	XP_024308800.1:n.248+9264_248+9266delinsTTG
XM_024453033.1:c.245+9264_245+9266delinsTTG	XP_024308801.1:n.245+9264_245+9266delinsTTG
XM_024453034.1:c.245+9264_245+9266delinsTTG	XP_024308802.1:n.245+9264_245+9266delinsTTG
NM_016836.4:c.251+9264_251+9266delinsTTG MANE Select	NP_058520.1:n.251+9264_251+9266delinsTTG
NM_002897.5:c.251+9264_251+9266delinsTTG	NP_002888.1:n.251+9264_251+9266delinsTTG