Canonical Allele Identifier: CA16619370

Gene: LTBP3

Linked Data

• ClinVar Variation Id: 422699
• ClinVar RCV Id: RCV000481729 ; RCV003754877
• dbSNP Id: rs779871744
• gnomAD v4: 11-65539073-GGCGGCGTCA-G
• MyVariant Identifiers: chr11:g.65306545_65306553del (hg19) ; chr11:g.65539074_65539082del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65539080_65539088del , CM000673.2:g.65539080_65539088del	GRCh38
NC_000011.9:g.65306551_65306559del , CM000673.1:g.65306551_65306559del	GRCh37
NC_000011.8:g.65063127_65063135del	NCBI36
NG_016437.1:g.24147_24155del
NG_047172.1:g.19016_19024del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526825.6:c.*3173_*3181del	ENSP00000435146.2:n.*3173_*3181del
ENST00000526927.6:c.2914_*6del	ENSP00000431219.2:n.[c.2914_*6del;Ter972ArgextTer?]
ENST00000529582.6:n.1952_1960del
ENST00000530866.6:c.3643_*6del	ENSP00000435276.2:n.[c.3643_*6del;Ter1215ArgextTer10]
ENST00000685178.1:n.3441_3449del
ENST00000688764.1:n.2270_2278del
ENST00000689505.1:c.3787_*6del	ENSP00000510401.1:n.[c.3787_*6del;Ter1263ArgextTer10]
ENST00000301873.11:c.3910_*6del MANE Select	ENSP00000301873.5:n.[c.3910_*6del;Ter1304ArgextTer10]
ENST00000301873.9:c.3910_*6del	ENSP00000301873.5:n.[c.3910_*6del;Ter1304ArgextTer10]
ENST00000322147.8:c.3769_3777del	ENSP00000326647.4:n.[c.3769_3777del;Ter1257ArgextTer10]
ENST00000526927.5:c.2720_2728del
ENST00000528516.5:c.*3414_*3422del	ENSP00000432350.1:n.*3414_*3422del
ENST00000529189.5:c.778_*6del	ENSP00000434406.1:n.[c.778_*6del;Ter260ArgextTer10]
ENST00000529582.5:n.1624_1632del
ENST00000530785.5:c.919_*6del	ENSP00000434315.1:n.[c.919_*6del;Ter307ArgextTer10]
ENST00000532932.5:c.2200_*6del	ENSP00000435530.1:n.[c.2200_*6del;Ter734ArgextTer10]
ENST00000536982.5:c.*126_*134del	ENSP00000441912.2:n.*126_*134del
NM_001130144.2:c.3910_*6del	NP_001123616.1:n.[c.3910_*6del;Ter1304ArgextTer10]
NM_001164266.1:c.3418_*6del	NP_001157738.1:n.[c.3418_*6del;Ter1140ArgextTer10]
NM_021070.4:c.3769_*6del	NP_066548.2:n.[c.3769_*6del;Ter1257ArgextTer10]
XM_011545032.1:c.3937_*6del	XP_011543334.1:n.[c.3937_*6del;Ter1313ArgextTer10]
XM_011545033.1:c.3796_*6del	XP_011543335.1:n.[c.3796_*6del;Ter1266ArgextTer10]
XM_011545032.2:c.3937_*6del	XP_011543334.1:n.[c.3937_*6del;Ter1313ArgextTer10]
XM_011545033.3:c.3796_*6del	XP_011543335.1:n.[c.3796_*6del;Ter1266ArgextTer10]
XR_001747875.2:n.4377_4385del
XR_949928.3:n.4236_4244del
NM_001130144.3:c.3910_*6del MANE Select	NP_001123616.1:n.[c.3910_*6del;Ter1304ArgextTer10]