Canonical Allele Identifier: CA562219358

Gene: SLC25A46

Linked Data

• gnomAD v2: 5-110097514-G-GCACTTC
• MyVariant Identifiers: chr5:g.110097514_110097515insCACTTC (hg19) ; chr5:g.110761814_110761815insCACTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761814_110761815insCACTTC , CM000667.2:g.110761814_110761815insCACTTC	GRCh38
NC_000005.9:g.110097514_110097515insCACTTC , CM000667.1:g.110097514_110097515insCACTTC	GRCh37
NC_000005.8:g.110125413_110125414insCACTTC	NCBI36
NG_051334.1:g.28679_28680insCACTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.*32_*33insCACTTC MANE Select	ENSP00000348211.3:n.*32_*33insCACTTC
ENST00000355943.7:c.*32_*33insCACTTC	ENSP00000348211.3:n.*32_*33insCACTTC
ENST00000447245.6:c.*32_*33insCACTTC	ENSP00000399717.2:n.*32_*33insCACTTC
ENST00000504098.1:c.*32_*33insCACTTC	ENSP00000425708.1:n.*32_*33insCACTTC
ENST00000509432.1:c.*32_*33insCACTTC	ENSP00000426604.1:n.*32_*33insCACTTC
ENST00000513706.2:n.2889_2890insCACTTC
ENST00000513807.5:c.*32_*33insCACTTC	ENSP00000421134.1:n.*32_*33insCACTTC
NM_001303249.1:c.*32_*33insCACTTC	NP_001290178.1:n.*32_*33insCACTTC
NM_001303250.1:c.*32_*33insCACTTC	NP_001290179.1:n.*32_*33insCACTTC
NM_138773.2:c.*32_*33insCACTTC	NP_620128.1:n.*32_*33insCACTTC
NM_001303249.2:c.*32_*33insCACTTC	NP_001290178.1:n.*32_*33insCACTTC
NM_001303250.2:c.*32_*33insCACTTC	NP_001290179.1:n.*32_*33insCACTTC
NM_138773.3:c.*32_*33insCACTTC	NP_620128.1:n.*32_*33insCACTTC
NR_138151.1:n.1563_1564insCACTTC
NM_138773.4:c.*32_*33insCACTTC MANE Select	NP_620128.1:n.*32_*33insCACTTC
NM_001303249.3:c.*32_*33insCACTTC	NP_001290178.1:n.*32_*33insCACTTC
NM_001303250.3:c.*32_*33insCACTTC	NP_001290179.1:n.*32_*33insCACTTC
NR_138151.2:n.1528_1529insCACTTC