Canonical Allele Identifier: CA7546912

Gene: SLC12A1

Linked Data

• dbSNP Id: rs757696562
• ExAC: 15:48521506 C / CATTTACAGTG
• gnomAD v2: 15-48521506-C-CATTTACAGTG
• MyVariant Identifiers: chr15:g.48521506_48521507insATTTACAGTG (hg19) ; chr15:g.48521507_48521508delinsATTTACAGTGTG (hg19) ; chr15:g.48229309_48229310insATTTACAGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229309_48229310insATTTACAGTG , CM000677.2:g.48229309_48229310insATTTACAGTG	GRCh38
NC_000015.9:g.48521506_48521507insATTTACAGTG , CM000677.1:g.48521506_48521507insATTTACAGTG	GRCh37
NC_000015.8:g.46308798_46308799insATTTACAGTG	NCBI36
NG_021301.1:g.28009_28010insATTTACAGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.845_846insATTTACAGTG	ENSP00000508901.1:p.Val283PhefsTer9
ENST00000380993.8:c.845_846insATTTACAGTG MANE Select	ENSP00000370381.3:p.Val283PhefsTer9
ENST00000646012.1:c.983_984insATTTACAGTG	ENSP00000495813.1:p.Val329PhefsTer9
ENST00000647232.1:c.845_846insATTTACAGTG	ENSP00000493875.1:p.Val283PhefsTer9
ENST00000647546.1:c.845_846insATTTACAGTG	ENSP00000495332.1:p.Val283PhefsTer9
ENST00000330289.10:c.845_846insATTTACAGTG	ENSP00000331550.6:p.Val283PhefsTer9
ENST00000380993.7:c.845_846insATTTACAGTG	ENSP00000370381.3:p.Val283PhefsTer9
ENST00000396577.7:c.845_846insATTTACAGTG	ENSP00000379822.3:p.Val283PhefsTer9
ENST00000558252.5:n.4968_4969insATTTACAGTG
ENST00000558405.5:c.845_846insATTTACAGTG	ENSP00000453409.1:p.Val283PhefsTer9
ENST00000559641.5:c.284_285insATTTACAGTG	ENSP00000453230.1:p.Val96PhefsTer9
ENST00000559723.2:n.218_219insATTTACAGTG
ENST00000560692.5:n.4984_4985insATTTACAGTG
ENST00000561127.5:c.284_285insATTTACAGTG	ENSP00000453602.2:p.Val96PhefsTer9
NM_000338.2:c.845_846insATTTACAGTG	NP_000329.2:p.Val283PhefsTer9
NM_001184832.1:c.845_846insATTTACAGTG	NP_001171761.1:p.Val283PhefsTer9
XM_005254605.1:c.941_942insATTTACAGTG	XP_005254662.1:p.Val315PhefsTer9
XM_005254606.1:c.845_846insATTTACAGTG	XP_005254663.1:p.Val283PhefsTer9
XM_006720656.1:c.941_942insATTTACAGTG	XP_006720719.1:p.Val315PhefsTer9
XR_931896.1:n.1157_1158insATTTACAGTG
XR_932203.1:n.229+646_229+647insCACTGTAAAT
XR_932204.1:n.222+646_222+647insCACTGTAAAT
XM_005254606.2:c.845_846insATTTACAGTG	XP_005254663.1:p.Val283PhefsTer9
XR_001751524.2:n.230+646_230+647insCACTGTAAAT
XR_001751525.1:n.230+646_230+647insCACTGTAAAT
XR_002957762.1:n.230+646_230+647insCACTGTAAAT
XR_932204.3:n.224+646_224+647insCACTGTAAAT
NM_000338.3:c.845_846insATTTACAGTG MANE Select	NP_000329.2:p.Val283PhefsTer9
NM_001184832.2:c.845_846insATTTACAGTG	NP_001171761.1:p.Val283PhefsTer9
NM_001384136.1:c.845_846insATTTACAGTG	NP_001371065.1:p.Val283PhefsTer9