Canonical Allele Identifier: CA529000276

Gene: LAMB3

Linked Data

• dbSNP Id: rs1558157117
• gnomAD v2: 1-209803110-CG-C
• gnomAD v4: 1-209629765-CG-C
• MyVariant Identifiers: chr1:g.209803111del (hg19) ; chr1:g.209629766del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209629768del , CM000663.2:g.209629768del	GRCh38
NC_000001.10:g.209803113del , CM000663.1:g.209803113del	GRCh37
NC_000001.9:g.207869736del	NCBI36
NG_007116.1:g.27710del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.1103del MANE Select	ENSP00000348384.3:p.Pro368ArgfsTer28
ENST00000356082.8:c.1103del	ENSP00000348384.3:p.Pro368ArgfsTer28
ENST00000367030.7:c.1103del	ENSP00000355997.3:p.Pro368ArgfsTer28
ENST00000391911.5:c.1103del	ENSP00000375778.1:p.Pro368ArgfsTer28
NM_000228.2:c.1103del	NP_000219.2:p.Pro368ArgfsTer28
NM_001017402.1:c.1103del	NP_001017402.1:p.Pro368ArgfsTer28
NM_001127641.1:c.1103del	NP_001121113.1:p.Pro368ArgfsTer28
XM_005273124.3:c.1103del	XP_005273181.1:p.Pro368ArgfsTer28
XM_005273124.4:c.1103del	XP_005273181.1:p.Pro368ArgfsTer28
XM_017001272.2:c.911del	XP_016856761.1:p.Pro304ArgfsTer28
NM_000228.3:c.1103del MANE Select	NP_000219.2:p.Pro368ArgfsTer28
NM_001017402.2:c.1103del	NP_001017402.1:p.Pro368ArgfsTer28