Canonical Allele Identifier: CA4342004

Gene: RBM48

Linked Data

• ClinVar Variation Id: 1918821
• ClinVar RCV Id: RCV002602171
• dbSNP Id: rs752421205
• ExAC: 7:92166145 TC / T
• gnomAD v2: 7-92166145-TC-T
• gnomAD v3: 7-92536831-TC-T
• gnomAD v4: 7-92536831-TC-T
• MyVariant Identifiers: chr7:g.92166146del (hg19) ; chr7:g.92536832del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92536832del , CM000669.2:g.92536832del	GRCh38
NC_000007.13:g.92166146del , CM000669.1:g.92166146del	GRCh37
NC_000007.12:g.92004082del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265732.10:c.1018-19del MANE Select	ENSP00000265732.5:n.1018-19del
ENST00000265732.9:c.1018-19del	ENSP00000265732.5:n.1018-19del
ENST00000481551.5:c.*1748del	ENSP00000419242.1:n.*1748del
ENST00000617438.1:c.1018-19del	ENSP00000478040.1:n.1018-19del
NM_032120.2:c.1018-19del	NP_115496.2:n.1018-19del
XM_005250636.3:c.*1748del	XP_005250693.1:n.*1748del
XM_006716149.2:c.*288del	XP_006716212.1:n.*288del
XM_006716150.2:c.1059-19del	XP_006716213.1:n.1059-19del
NM_001363366.1:c.1059-19del	NP_001350295.1:n.1059-19del
NM_001363367.1:c.493-19del	NP_001350296.1:n.493-19del
NM_032120.3:c.1018-19del	NP_115496.2:n.1018-19del
XM_005250636.5:c.*1748del	XP_005250693.1:n.*1748del
XM_006716149.4:c.*288del	XP_006716212.1:n.*288del
NM_032120.4:c.1018-19del MANE Select	NP_115496.2:n.1018-19del