Canonical Allele Identifier: CA1465153

Gene: LYST

Linked Data

• ClinVar Variation Id: 403065
• ClinVar RCV Id: RCV001573976 ; RCV002263691
• dbSNP Id: rs36014994
• ExAC: 1:235826382 TA / T
• gnomAD v2: 1-235826382-TA-T
• gnomAD v3: 1-235663082-TA-T
• gnomAD v4: 1-235663082-TA-T
• COSMIC: COSM5491310
• MyVariant Identifiers: chr1:g.235826385del (hg19) ; chr1:g.235826384del (hg19) ; chr1:g.235826383del (hg19) ; chr1:g.235663085del (hg38) ; chr1:g.235663084del (hg38) ; chr1:g.235663083del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235663095del , CM000663.2:g.235663095del	GRCh38
NC_000001.10:g.235826395del , CM000663.1:g.235826395del	GRCh37
NC_000001.9:g.233893018del	NCBI36
NG_007397.1:g.225558del , LRG_143:g.225558del

Transcript Alleles

HGVS	Amino-acid change
ENST00000462376.2:n.3087-5del
ENST00000697178.1:c.*7254-5del	ENSP00000513163.1:n.*7254-5del
ENST00000697235.1:c.1818-5del	ENSP00000513202.1:n.1818-5del
ENST00000697236.1:c.4732-5del	ENSP00000513203.1:n.4732-5del
ENST00000697237.1:c.1979-5del
ENST00000697238.1:n.422-5del
ENST00000697239.1:n.662-5del
ENST00000697240.1:c.3335-5del	ENSP00000513205.1:n.3335-5del
ENST00000389793.7:c.11268-5del MANE Select	ENSP00000374443.2:n.11268-5del
ENST00000389793.6:c.11268-5del	ENSP00000374443.2:n.11268-5del
ENST00000389794.7:c.*6692-5del	ENSP00000374444.4:n.*6692-5del
ENST00000473037.5:n.6258-5del
NM_000081.3:c.11268-5del , LRG_143t1:c.11268-5del	NP_000072.2:n.11268-5del
NM_001301365.1:c.11268-5del , LRG_143t2:c.11268-5del	NP_001288294.1:n.11268-5del
XM_011544031.1:c.11430-5del	XP_011542333.1:n.11430-5del
XM_011544032.1:c.11430-5del	XP_011542334.1:n.11430-5del
XM_011544033.1:c.11430-5del	XP_011542335.1:n.11430-5del
XM_011544034.1:c.11292-5del	XP_011542336.1:n.11292-5del
XM_011544036.1:c.9093-5del	XP_011542338.1:n.9093-5del
XM_011544033.2:c.11430-5del	XP_011542335.1:n.11430-5del
XM_011544036.2:c.9093-5del	XP_011542338.1:n.9093-5del
XM_017000150.1:c.11199-5del	XP_016855639.1:n.11199-5del
NM_000081.4:c.11268-5del MANE Select	NP_000072.2:n.11268-5del