Canonical Allele Identifier: CA10646470

Gene: SLC24A1

Linked Data

• ClinVar Variation Id: 316790
• ClinVar RCV Id: RCV000263278
• dbSNP Id: rs886051349
• MyVariant Identifiers: chr15:g.65916843_65916846del (hg19) ; chr15:g.65624505_65624508del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65624505_65624508del , CM000677.2:g.65624505_65624508del	GRCh38
NC_000015.9:g.65916843_65916846del , CM000677.1:g.65916843_65916846del	GRCh37
NC_000015.8:g.63703896_63703899del	NCBI36
NG_031968.1:g.7574_7577del
NG_031968.2:g.18101_18104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261892.11:c.425_428del MANE Select	ENSP00000261892.6:p.Glu142AlafsTer9
ENST00000261892.10:c.425_428del	ENSP00000261892.6:p.Glu142AlafsTer9
ENST00000339868.10:c.425_428del	ENSP00000341837.7:p.Glu142AlafsTer9
ENST00000399033.8:c.425_428del	ENSP00000381991.4:p.Glu142AlafsTer9
ENST00000425561.3:n.526-1312_526-1309del
ENST00000434116.6:n.1900_1903del
ENST00000537259.5:c.425_428del	ENSP00000439693.1:p.Glu142AlafsTer9
ENST00000544319.6:c.425_428del	ENSP00000445163.1:p.Glu142AlafsTer9
ENST00000546330.1:c.425_428del	ENSP00000439190.1:p.Glu142AlafsTer9
NM_001301031.1:c.425_428del	NP_001287960.1:p.Glu142AlafsTer9
NM_001301032.1:c.425_428del	NP_001287961.1:p.Glu142AlafsTer9
NM_001301033.1:c.425_428del	NP_001287962.1:p.Glu142AlafsTer9
NM_004727.2:c.425_428del	NP_004718.1:p.Glu142AlafsTer9
XM_005254778.3:c.425_428del	XP_005254835.1:p.Glu142AlafsTer9
XM_005254781.2:c.425_428del	XP_005254838.1:p.Glu142AlafsTer9
XM_006720764.2:c.425_428del	XP_006720827.1:p.Glu142AlafsTer9
XM_006720767.2:c.425_428del	XP_006720830.1:p.Glu142AlafsTer9
XM_006720768.2:c.425_428del	XP_006720831.1:p.Glu142AlafsTer9
XM_006720769.2:c.425_428del	XP_006720832.1:p.Glu142AlafsTer9
XM_011522219.1:c.425_428del	XP_011520521.1:p.Glu142AlafsTer9
XM_011522220.1:c.425_428del	XP_011520522.1:p.Glu142AlafsTer9
XM_011522221.1:c.425_428del	XP_011520523.1:p.Glu142AlafsTer9
XM_011522222.1:c.425_428del	XP_011520524.1:p.Glu142AlafsTer9
XM_011522223.1:c.425_428del	XP_011520525.1:p.Glu142AlafsTer9
XM_011522225.1:c.425_428del	XP_011520527.1:p.Glu142AlafsTer9
XM_011522226.1:c.425_428del	XP_011520528.1:p.Glu142AlafsTer9
XM_005254778.4:c.425_428del	XP_005254835.1:p.Glu142AlafsTer9
XM_005254781.4:c.425_428del	XP_005254838.1:p.Glu142AlafsTer9
XM_006720768.4:c.425_428del	XP_006720831.1:p.Glu142AlafsTer9
XM_011522220.3:c.425_428del	XP_011520522.1:p.Glu142AlafsTer9
XM_011522221.3:c.425_428del	XP_011520523.1:p.Glu142AlafsTer9
XM_011522222.3:c.425_428del	XP_011520524.1:p.Glu142AlafsTer9
XM_011522226.3:c.425_428del	XP_011520528.1:p.Glu142AlafsTer9
XM_017022724.2:c.425_428del	XP_016878213.1:p.Glu142AlafsTer9
XM_017022725.2:c.425_428del	XP_016878214.1:p.Glu142AlafsTer9
XM_024450103.1:c.425_428del	XP_024305871.1:p.Glu142AlafsTer9
XM_024450104.1:c.425_428del	XP_024305872.1:p.Glu142AlafsTer9
XM_024450105.1:c.425_428del	XP_024305873.1:p.Glu142AlafsTer9
XM_024450106.1:c.425_428del	XP_024305874.1:p.Glu142AlafsTer9
NM_004727.3:c.425_428del MANE Select	NP_004718.1:p.Glu142AlafsTer9
NM_001301033.2:c.425_428del	NP_001287962.1:p.Glu142AlafsTer9