Canonical Allele Identifier: CA10097314

Gene: SLC25A1

Linked Data

• dbSNP Id: rs782558877
• ExAC: 22:19164059 C / CCACCTTCCCCT
• gnomAD v2: 22-19164059-C-CCACCTTCCCCT
• gnomAD v3: 22-19176546-C-CCACCTTCCCCT
• gnomAD v4: 22-19176546-C-CCACCTTCCCCT
• MyVariant Identifiers: chr22:g.19164061_19164070delinsACCTTCCCCTCCCCTTCCCCT (hg19) ; chr22:g.19164059_19164060insCACCTTCCCCT (hg19) ; chr22:g.19176546_19176547insCACCTTCCCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176547_19176548insACCTTCCCCTC , CM000684.2:g.19176547_19176548insACCTTCCCCTC	GRCh38
NC_000022.10:g.19164060_19164061insACCTTCCCCTC , CM000684.1:g.19164060_19164061insACCTTCCCCTC	GRCh37
NC_000022.9:g.17544060_17544061insACCTTCCCCTC	NCBI36
NG_033863.1:g.7317_7318insAGGGGAAGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.747+31_747+32insAGGGGAAGGTG MANE Select	ENSP00000215882.5:n.747+31_747+32insAGGGGAAGGTG
ENST00000215882.9:c.747+31_747+32insAGGGGAAGGTG	ENSP00000215882.5:n.747+31_747+32insAGGGGAAGGTG
ENST00000451283.5:c.438+31_438+32insAGGGGAAGGTG	ENSP00000401480.1:n.438+31_438+32insAGGGGAAGGTG
ENST00000470922.5:n.889+31_889+32insAGGGGAAGGTG
NM_001256534.1:c.768+31_768+32insAGGGGAAGGTG	NP_001243463.1:n.768+31_768+32insAGGGGAAGGTG
NM_001287387.1:c.438+31_438+32insAGGGGAAGGTG	NP_001274316.1:n.438+31_438+32insAGGGGAAGGTG
NM_005984.4:c.747+31_747+32insAGGGGAAGGTG	NP_005975.1:n.747+31_747+32insAGGGGAAGGTG
NR_046298.2:n.798+31_798+32insAGGGGAAGGTG
NM_005984.5:c.747+31_747+32insAGGGGAAGGTG MANE Select	NP_005975.1:n.747+31_747+32insAGGGGAAGGTG
NM_001256534.2:c.768+31_768+32insAGGGGAAGGTG	NP_001243463.1:n.768+31_768+32insAGGGGAAGGTG
NM_001287387.2:c.438+31_438+32insAGGGGAAGGTG	NP_001274316.1:n.438+31_438+32insAGGGGAAGGTG
NR_046298.3:n.671+31_671+32insAGGGGAAGGTG