Canonical Allele Identifier: CA2616969038

Gene: SLC6A13

Linked Data

• gnomAD v4: 12-242542-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.242542_242543insC , CM000674.2:g.242542_242543insC	GRCh38
NC_000012.11:g.351708_351709insC , CM000674.1:g.351708_351709insC	GRCh37
NC_000012.10:g.221969_221970insC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343164.9:c.478+71_478+72insG MANE Select	ENSP00000339260.4:n.478+71_478+72insG
ENST00000343164.8:c.478+71_478+72insG	ENSP00000339260.4:n.478+71_478+72insG
ENST00000445055.6:c.203-4533_203-4532insG	ENSP00000407104.2:n.203-4533_203-4532insG
ENST00000536842.5:n.531+71_531+72insG
ENST00000539260.1:c.*117+71_*117+72insG	ENSP00000437386.1:n.*117+71_*117+72insG
ENST00000542272.5:c.121+71_121+72insG	ENSP00000443466.1:n.121+71_121+72insG
ENST00000546319.5:c.203-4533_203-4532insG	ENSP00000444606.1:n.203-4533_203-4532insG
NM_001190997.2:c.203-4533_203-4532insG	NP_001177926.1:n.203-4533_203-4532insG
NM_016615.4:c.478+71_478+72insG	NP_057699.2:n.478+71_478+72insG
XM_005253749.2:c.544+71_544+72insG	XP_005253806.1:n.544+71_544+72insG
XM_011521012.1:c.121+71_121+72insG	XP_011519314.1:n.121+71_121+72insG
XM_011521013.1:c.-182+71_-182+72insG	XP_011519315.1:n.-182+71_-182+72insG
XM_011521014.1:c.-182+71_-182+72insG	XP_011519316.1:n.-182+71_-182+72insG
XM_011521012.2:c.121+71_121+72insG	XP_011519314.1:n.121+71_121+72insG
XM_017019844.1:c.478+71_478+72insG	XP_016875333.1:n.478+71_478+72insG
XM_017019846.1:c.478+71_478+72insG	XP_016875335.1:n.478+71_478+72insG
XM_017019847.1:c.478+71_478+72insG	XP_016875336.1:n.478+71_478+72insG
XR_001748849.1:n.531+71_531+72insG
XR_002957372.1:n.531+71_531+72insG
NM_016615.5:c.478+71_478+72insG MANE Select	NP_057699.2:n.478+71_478+72insG
NM_001190997.3:c.203-4533_203-4532insG	NP_001177926.1:n.203-4533_203-4532insG