Canonical Allele Identifier: CA562219411

Gene: SLC25A46

Linked Data

• dbSNP Id: rs1554093137
• gnomAD v2: 5-110096732-ATTTCATTTG-A
• MyVariant Identifiers: chr5:g.110096733_110096741del (hg19) ; chr5:g.110761033_110761041del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761033_110761041del , CM000667.2:g.110761033_110761041del	GRCh38
NC_000005.9:g.110096733_110096741del , CM000667.1:g.110096733_110096741del	GRCh37
NC_000005.8:g.110124632_110124640del	NCBI36
NG_051334.1:g.27898_27906del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.679-171_679-163del MANE Select	ENSP00000348211.3:n.679-171_679-163del
ENST00000355943.7:c.679-171_679-163del	ENSP00000348211.3:n.679-171_679-163del
ENST00000447245.6:c.679-414_679-406del	ENSP00000399717.2:n.679-414_679-406del
ENST00000502462.6:n.995-171_995-163del
ENST00000504098.1:c.241-171_241-163del	ENSP00000425708.1:n.241-171_241-163del
ENST00000509432.1:c.40-171_40-163del	ENSP00000426604.1:n.40-171_40-163del
ENST00000513706.2:n.2279-171_2279-163del
ENST00000513807.5:c.193-171_193-163del	ENSP00000421134.1:n.193-171_193-163del
NM_001303249.1:c.679-414_679-406del	NP_001290178.1:n.679-414_679-406del
NM_001303250.1:c.406-171_406-163del	NP_001290179.1:n.406-171_406-163del
NM_138773.2:c.679-171_679-163del	NP_620128.1:n.679-171_679-163del
NM_001303249.2:c.679-414_679-406del	NP_001290178.1:n.679-414_679-406del
NM_001303250.2:c.406-171_406-163del	NP_001290179.1:n.406-171_406-163del
NM_138773.3:c.679-171_679-163del	NP_620128.1:n.679-171_679-163del
NR_138151.1:n.953-171_953-163del
NM_138773.4:c.679-171_679-163del MANE Select	NP_620128.1:n.679-171_679-163del
NM_001303249.3:c.679-414_679-406del	NP_001290178.1:n.679-414_679-406del
NM_001303250.3:c.406-171_406-163del	NP_001290179.1:n.406-171_406-163del
NR_138151.2:n.918-171_918-163del