Canonical Allele Identifier: CA645369806

Gene: RBM10

Linked Data

• ClinVar Variation Id: 429505
• ClinVar RCV Id: RCV000494572
• dbSNP Id: rs1131691421
• MyVariant Identifiers: chrX:g.47044888_47044891del (hg19) ; chrX:g.47185489_47185492del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47185489_47185492del , CM000685.2:g.47185489_47185492del	GRCh38
NC_000023.10:g.47044888_47044891del , CM000685.1:g.47044888_47044891del	GRCh37
NC_000023.9:g.46929832_46929835del	NCBI36
NG_012548.1:g.45258_45261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377604.8:c.2214_2217del MANE Select	ENSP00000366829.3:p.Ser738ArgfsTer?
ENST00000329236.8:c.2409_2412del	ENSP00000328848.8:p.Ser803ArgfsTer?
ENST00000345781.10:c.1983_1986del	ENSP00000329659.6:p.Ser661ArgfsTer?
ENST00000377604.7:c.2214_2217del	ENSP00000366829.3:p.Ser738ArgfsTer?
ENST00000628161.2:c.1980_1983del	ENSP00000486115.1:p.Ser660ArgfsTer?
NM_001204466.1:c.1983_1986del	NP_001191395.1:p.Ser661ArgfsTer?
NM_001204467.1:c.2211_2214del	NP_001191396.1:p.Ser737ArgfsTer?
NM_001204468.1:c.2409_2412del	NP_001191397.1:p.Ser803ArgfsTer?
NM_005676.4:c.2214_2217del	NP_005667.2:p.Ser738ArgfsTer?
NM_152856.2:c.1980_1983del	NP_690595.1:p.Ser660ArgfsTer?
XM_005272677.3:c.2406_2409del	XP_005272734.1:p.Ser802ArgfsTer?
XM_005272678.3:c.2178_2181del	XP_005272735.1:p.Ser726ArgfsTer?
XM_005272679.3:c.2175_2178del	XP_005272736.1:p.Ser725ArgfsTer?
XM_006724563.1:c.1605_1608del	XP_006724626.1:p.Ser535ArgfsTer?
XM_011543989.1:c.1278_1281del	XP_011542291.1:p.Ser426ArgfsTer?
XM_005272677.4:c.2406_2409del	XP_005272734.1:p.Ser802ArgfsTer?
XM_005272678.4:c.2178_2181del	XP_005272735.1:p.Ser726ArgfsTer?
XM_005272679.4:c.2175_2178del	XP_005272736.1:p.Ser725ArgfsTer?
XM_017029884.2:c.1605_1608del	XP_016885373.1:p.Ser535ArgfsTer?
XM_017029885.1:c.1602_1605del	XP_016885374.1:p.Ser534ArgfsTer?
XM_024452457.1:c.2511_2514del	XP_024308225.1:p.Ser837ArgfsTer?
XM_024452458.1:c.2508_2511del	XP_024308226.1:p.Ser836ArgfsTer?
XM_024452459.1:c.2316_2319del	XP_024308227.1:p.Ser772ArgfsTer?
XM_024452460.1:c.2313_2316del	XP_024308228.1:p.Ser771ArgfsTer?
XM_024452461.1:c.2280_2283del	XP_024308229.1:p.Ser760ArgfsTer?
XM_024452462.1:c.2085_2088del	XP_024308230.1:p.Ser695ArgfsTer?
XM_024452463.1:c.1707_1710del	XP_024308231.1:p.Ser569ArgfsTer?
XM_024452464.1:c.1707_1710del	XP_024308232.1:p.Ser569ArgfsTer?
XM_024452465.1:c.1380_1383del	XP_024308233.1:p.Ser460ArgfsTer?
NM_005676.5:c.2214_2217del MANE Select	NP_005667.2:p.Ser738ArgfsTer?
NM_001204466.2:c.1983_1986del	NP_001191395.1:p.Ser661ArgfsTer?
NM_001204467.2:c.2211_2214del	NP_001191396.1:p.Ser737ArgfsTer?
NM_152856.3:c.1980_1983del	NP_690595.1:p.Ser660ArgfsTer?
NM_001204468.2:c.2409_2412del	NP_001191397.1:p.Ser803ArgfsTer?