Canonical Allele Identifier: CA162123953

Gene: SLC25A40

Linked Data

• dbSNP Id: rs999045961
• gnomAD v2: 7-87466783-AGTGCTGTCTCCTTCAAAGGGTTTATTTTAGCTAATAATAAC-A
• gnomAD v3: 7-87837468-AGTGCTGTCTCCTTCAAAGGGTTTATTTTAGCTAATAATAAC-A
• gnomAD v4: 7-87837468-AGTGCTGTCTCCTTCAAAGGGTTTATTTTAGCTAATAATAAC-A
• MyVariant Identifiers: chr7:g.87466784_87466824del (hg19) ; chr7:g.87837469_87837509del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87837469_87837509del , CM000669.2:g.87837469_87837509del	GRCh38
NC_000007.13:g.87466784_87466824del , CM000669.1:g.87466784_87466824del	GRCh37
NC_000007.12:g.87304720_87304760del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341119.10:c.824-699_824-659del MANE Select	ENSP00000344831.5:n.824-699_824-659del
ENST00000341119.9:c.824-699_824-659del	ENSP00000344831.5:n.824-699_824-659del
ENST00000429674.5:c.*641-699_*641-659del	ENSP00000405566.1:n.*641-699_*641-659del
ENST00000446236.5:c.*187-699_*187-659del	ENSP00000401473.1:n.*187-699_*187-659del
ENST00000470328.1:n.636-1148_636-1108del
ENST00000496348.5:n.110-699_110-659del
NM_018843.3:c.824-699_824-659del	NP_061331.2:n.824-699_824-659del
XM_005250496.3:c.824-699_824-659del	XP_005250553.1:n.824-699_824-659del
XM_011516401.1:c.824-699_824-659del	XP_011514703.1:n.824-699_824-659del
XM_011516402.1:c.824-699_824-659del	XP_011514704.1:n.824-699_824-659del
XM_011516403.1:c.824-1148_824-1108del	XP_011514705.1:n.824-1148_824-1108del
XM_011516404.1:c.638-699_638-659del	XP_011514706.1:n.638-699_638-659del
XM_011516405.1:c.638-699_638-659del	XP_011514707.1:n.638-699_638-659del
XR_927490.1:n.1300-699_1300-659del
NM_018843.4:c.824-699_824-659del MANE Select	NP_061331.2:n.824-699_824-659del