Canonical Allele Identifier: CA952340

Gene: RPL5 DIPK1A

Linked Data

• dbSNP Id: rs772661926
• ExAC: 1:93298914 CA / C
• gnomAD v2: 1-93298914-CA-C
• gnomAD v4: 1-92833357-CA-C
• MyVariant Identifiers: chr1:g.93298915del (hg19) ; chr1:g.92833358del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92833360del , CM000663.2:g.92833360del	GRCh38
NC_000001.10:g.93298917del , CM000663.1:g.93298917del	GRCh37
NC_000001.9:g.93071505del	NCBI36
NG_011779.1:g.6324del
NG_033051.1:g.133165del
NG_011779.2:g.6375del

Transcript Alleles

HGVS	Amino-acid change
ENST00000370321.8:c.4-29del (RPL5) MANE Select	ENSP00000359345.2:n.4-29del
ENST00000645119.1:c.4-29del (RPL5)	ENSP00000493811.1:n.4-29del
ENST00000645300.1:c.-77-185del (RPL5)	ENSP00000495589.1:n.-77-185del
ENST00000646852.1:n.33-29del (RPL5)
ENST00000315741.5:c.-147-29del (RPL5)	ENSP00000359338.2:n.-147-29del
ENST00000370321.7:c.4-29del (RPL5)	ENSP00000359345.2:n.4-29del
ENST00000461952.1:n.599del (RPL5)
ENST00000470843.5:c.4-29del (RPL5)	ENSP00000473675.1:n.4-29del
ENST00000615519.4:c.475-324del (DIPK1A)	ENSP00000483279.1:n.475-324del
NM_000969.3:c.4-29del (RPL5)	NP_000960.2:n.4-29del
NM_001252273.1:c.475-324del (DIPK1A)	NP_001239202.1:n.475-324del
NM_000969.5:c.4-29del (RPL5) MANE Select	NP_000960.2:n.4-29del
NR_146333.1:n.133-29del (RPL5)
NM_001252273.2:c.475-324del (DIPK1A)	NP_001239202.1:n.475-324del