Canonical Allele Identifier: CA174917

Gene: LRRC37A3

Linked Data

• ClinVar Variation Id: 161856
• ClinVar RCV Id: RCV000149392
• dbSNP Id: rs193920919
• COSMIC: COSM1180152
• MyVariant Identifiers: chr17:g.62856405del (hg19) ; chr17:g.64860287del (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64860288del , CM000679.2:g.64860288del	GRCh38
NC_000017.10:g.62856406del , CM000679.1:g.62856406del	GRCh37
NC_000017.9:g.60286868del	NCBI36
NG_054749.1:g.110942del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584306.6:c.3859del MANE Select	ENSP00000464535.1:p.Ala1287LeufsTer6
ENST00000319651.9:c.3859del	ENSP00000325713.5:p.Ala1287LeufsTer6
ENST00000334962.9:c.790del	ENSP00000335617.5:p.Ala264LeufsTer6
ENST00000339474.9:c.1213del	ENSP00000344298.5:p.Ala405LeufsTer6
ENST00000400877.7:c.973del	ENSP00000383674.3:p.Ala325LeufsTer6
ENST00000584306.5:c.3859del	ENSP00000464535.1:p.Ala1287LeufsTer6
NM_001303255.1:c.1213del	NP_001290184.1:p.Ala405LeufsTer6
NM_199340.3:c.3859del	NP_955372.2:p.Ala1287LeufsTer6
XM_011524769.1:c.3859del	XP_011523071.1:p.Ala1287LeufsTer6
XM_011524770.1:c.3787del	XP_011523072.1:p.Ala1263LeufsTer6
XM_011524771.1:c.3859del	XP_011523073.1:p.Ala1287LeufsTer6
XM_011524772.1:c.3706del	XP_011523074.1:p.Ala1236LeufsTer6
XM_011524773.1:c.3634del	XP_011523075.1:p.Ala1212LeufsTer6
XM_011524774.1:c.3577del	XP_011523076.1:p.Ala1193LeufsTer6
XM_011524776.1:c.1366del	XP_011523078.1:p.Ala456LeufsTer6
XM_011524777.1:c.1213del	XP_011523079.1:p.Ala405LeufsTer6
XM_011524778.1:c.973del	XP_011523080.1:p.Ala325LeufsTer6
XR_934912.1:n.366+10301del
XR_934913.1:n.1103+10301del
XR_934914.1:n.390+10301del
XR_934916.1:n.366+10301del
XR_934917.1:n.366+10301del
NM_001303255.2:c.1213del	NP_001290184.1:p.Ala405LeufsTer6
NM_199340.4:c.3859del	NP_955372.2:p.Ala1287LeufsTer6
XR_934912.3:n.382+10301del
XR_934913.3:n.1430+10301del
XR_934914.3:n.406+10301del
NM_001303255.3:c.1213del	NP_001290184.1:p.Ala405LeufsTer6
NM_199340.5:c.3859del MANE Select	NP_955372.2:p.Ala1287LeufsTer6