Canonical Allele Identifier: CA1376121

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 2893622
• ClinVar RCV Id: RCV003732913
• dbSNP Id: rs781366196
• ExAC: 1:209823482 G / GTGATGGAGT
• gnomAD v2: 1-209823482-G-GTGATGGAGT
• gnomAD v3: 1-209650137-G-GTGATGGAGT
• gnomAD v4: 1-209650137-G-GTGATGGAGT
• MyVariant Identifiers: chr1:g.209823482_209823483insTGATGGAGT (hg19) ; chr1:g.209650137_209650138insTGATGGAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209650145_209650146insTTGATGGAG , CM000663.2:g.209650145_209650146insTTGATGGAG	GRCh38
NC_000001.10:g.209823490_209823491insTTGATGGAG , CM000663.1:g.209823490_209823491insTTGATGGAG	GRCh37
NC_000001.9:g.207890113_207890114insTTGATGGAG	NCBI36
NG_007116.1:g.7338_7339insACTCCATCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.29-20_29-19insACTCCATCA MANE Select	ENSP00000348384.3:n.29-20_29-19insACTCCATCA
ENST00000356082.8:c.29-20_29-19insACTCCATCA	ENSP00000348384.3:n.29-20_29-19insACTCCATCA
ENST00000367030.7:c.29-20_29-19insACTCCATCA	ENSP00000355997.3:n.29-20_29-19insACTCCATCA
ENST00000391911.5:c.29-20_29-19insACTCCATCA	ENSP00000375778.1:n.29-20_29-19insACTCCATCA
ENST00000415782.1:c.29-20_29-19insACTCCATCA	ENSP00000388960.1:n.29-20_29-19insACTCCATCA
NM_000228.2:c.29-20_29-19insACTCCATCA	NP_000219.2:n.29-20_29-19insACTCCATCA
NM_001017402.1:c.29-20_29-19insACTCCATCA	NP_001017402.1:n.29-20_29-19insACTCCATCA
NM_001127641.1:c.29-20_29-19insACTCCATCA	NP_001121113.1:n.29-20_29-19insACTCCATCA
XM_005273124.3:c.29-20_29-19insACTCCATCA	XP_005273181.1:n.29-20_29-19insACTCCATCA
XM_005273124.4:c.29-20_29-19insACTCCATCA	XP_005273181.1:n.29-20_29-19insACTCCATCA
XM_017001272.2:c.29-20_29-19insACTCCATCA	XP_016856761.1:n.29-20_29-19insACTCCATCA
NM_000228.3:c.29-20_29-19insACTCCATCA MANE Select	NP_000219.2:n.29-20_29-19insACTCCATCA
NM_001017402.2:c.29-20_29-19insACTCCATCA	NP_001017402.1:n.29-20_29-19insACTCCATCA