Canonical Allele Identifier: CA596112340

Gene: RBM20

Linked Data

• dbSNP Id: rs1463077956
• gnomAD v2: 10-112572126-TTCCCACAGCCC-T
• gnomAD v4: 10-110812368-TTCCCACAGCCC-T
• MyVariant Identifiers: chr10:g.112572127_112572137del (hg19) ; chr10:g.110812369_110812379del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812372_110812382del , CM000672.2:g.110812372_110812382del	GRCh38
NC_000010.10:g.112572130_112572140del , CM000672.1:g.112572130_112572140del	GRCh37
NC_000010.9:g.112562120_112562130del	NCBI36
NG_021177.1:g.172976_172986del , LRG_382:g.172976_172986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.1975_1985del MANE Select	ENSP00000358532.3:p.His659GlyfsTer6
ENST00000369519.3:c.1975_1985del	ENSP00000358532.3:p.His659GlyfsTer6
NM_001134363.2:c.1975_1985del	NP_001127835.2:p.His659GlyfsTer6
XM_011539697.1:c.1591_1601del	XP_011537999.1:p.His531GlyfsTer6
XM_017016103.2:c.1810_1820del	XP_016871592.1:p.His604GlyfsTer6
XM_017016104.2:c.1591_1601del	XP_016871593.1:p.His531GlyfsTer6
NM_001134363.3:c.1975_1985del MANE Select	NP_001127835.2:p.His659GlyfsTer6