Canonical Allele Identifier: CA4031597

Gene: STX11

Linked Data

• ClinVar Variation Id: 355597
• ClinVar RCV Id: RCV000269130 ; RCV000692657 ; RCV002263648
• dbSNP Id: rs760492745
• ExAC: 6:144507785 ACTT / A
• gnomAD v2: 6-144507785-ACTT-A
• gnomAD v3: 6-144186648-ACTT-A
• gnomAD v4: 6-144186648-ACTT-A
• MyVariant Identifiers: chr6:g.144507788_144507790del (hg19) ; chr6:g.144507786_144507788del (hg19) ; chr6:g.144186651_144186653del (hg38) ; chr6:g.144186650_144186652del (hg38) ; chr6:g.144186649_144186651del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.144186651_144186653del , CM000668.2:g.144186651_144186653del	GRCh38
NC_000006.11:g.144507788_144507790del , CM000668.1:g.144507788_144507790del	GRCh37
NC_000006.10:g.144549481_144549483del	NCBI36
NG_007613.1:g.41135_41137del , LRG_113:g.41135_41137del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698355.1:c.24_26del	ENSP00000513678.1:p.Leu9del
ENST00000698356.1:c.24_26del	ENSP00000513679.1:p.Leu9del
ENST00000698357.1:c.24_26del	ENSP00000513680.1:p.Leu9del
ENST00000367568.5:c.24_26del MANE Select	ENSP00000356540.4:p.Leu9del
ENST00000367568.4:c.24_26del	ENSP00000356540.4:p.Leu9del
NM_003764.3:c.24_26del , LRG_113t1:c.24_26del	NP_003755.2:p.Leu9del
XM_011536213.1:c.102_104del	XP_011534515.1:p.Leu35del
XM_011536214.1:c.24_26del	XP_011534516.1:p.Leu9del
XM_011536215.1:c.24_26del	XP_011534517.1:p.Leu9del
XM_011536216.1:c.24_26del	XP_011534518.1:p.Leu9del
XM_011536217.1:c.24_26del	XP_011534519.1:p.Leu9del
XM_011536218.1:c.24_26del	XP_011534520.1:p.Leu9del
XM_011536213.2:c.102_104del	XP_011534515.1:p.Leu35del
XM_011536214.2:c.24_26del	XP_011534516.1:p.Leu9del
XM_011536217.2:c.24_26del	XP_011534519.1:p.Leu9del
XM_011536218.2:c.24_26del	XP_011534520.1:p.Leu9del
XM_017011400.1:c.24_26del	XP_016866889.1:p.Leu9del
NM_003764.4:c.24_26del MANE Select	NP_003755.2:p.Leu9del