Canonical Allele Identifier: CA913189882

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 595836
• ClinVar RCV Id: RCV000731496
• dbSNP Id: rs1558148080

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209618594_209618595del , CM000663.2:g.209618594_209618595del	GRCh38
NC_000001.10:g.209791939_209791940del , CM000663.1:g.209791939_209791940del	GRCh37
NC_000001.9:g.207858562_207858563del	NCBI36
NG_007116.1:g.38883_38884del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.2768_2769del MANE Select	ENSP00000348384.3:p.Thr923ArgfsTer11
ENST00000356082.8:c.2768_2769del	ENSP00000348384.3:p.Thr923ArgfsTer11
ENST00000367030.7:c.2768_2769del	ENSP00000355997.3:p.Thr923ArgfsTer11
ENST00000391911.5:c.2768_2769del	ENSP00000375778.1:p.Thr923ArgfsTer11
ENST00000455193.1:c.-26_-25del	ENSP00000398683.1:n.-26_-25del
NM_000228.2:c.2768_2769del	NP_000219.2:p.Thr923ArgfsTer11
NM_001017402.1:c.2768_2769del	NP_001017402.1:p.Thr923ArgfsTer11
NM_001127641.1:c.2768_2769del	NP_001121113.1:p.Thr923ArgfsTer11
XM_005273124.3:c.2768_2769del	XP_005273181.1:p.Thr923ArgfsTer11
XM_005273124.4:c.2768_2769del	XP_005273181.1:p.Thr923ArgfsTer11
XM_017001272.2:c.2576_2577del	XP_016856761.1:p.Thr859ArgfsTer11
NM_000228.3:c.2768_2769del MANE Select	NP_000219.2:p.Thr923ArgfsTer11
NM_001017402.2:c.2768_2769del	NP_001017402.1:p.Thr923ArgfsTer11