Canonical Allele Identifier: CA1011767307

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 1075457
• ClinVar RCV Id: RCV001389058
• dbSNP Id: rs1666418404
• gnomAD v3: 1-209625796-ACAGGCTGGCGGTGG-A
• gnomAD v4: 1-209625796-ACAGGCTGGCGGTGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209625799_209625812del , CM000663.2:g.209625799_209625812del	GRCh38
NC_000001.10:g.209799144_209799157del , CM000663.1:g.209799144_209799157del	GRCh37
NC_000001.9:g.207865767_207865780del	NCBI36
NG_007116.1:g.31666_31679del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.1814_1827del MANE Select	ENSP00000348384.3:p.Ala605ValfsTer21
ENST00000356082.8:c.1814_1827del	ENSP00000348384.3:p.Ala605ValfsTer21
ENST00000367030.7:c.1814_1827del	ENSP00000355997.3:p.Ala605ValfsTer21
ENST00000391911.5:c.1814_1827del	ENSP00000375778.1:p.Ala605ValfsTer21
NM_000228.2:c.1814_1827del	NP_000219.2:p.Ala605ValfsTer21
NM_001017402.1:c.1814_1827del	NP_001017402.1:p.Ala605ValfsTer21
NM_001127641.1:c.1814_1827del	NP_001121113.1:p.Ala605ValfsTer21
XM_005273124.3:c.1814_1827del	XP_005273181.1:p.Ala605ValfsTer21
XM_005273124.4:c.1814_1827del	XP_005273181.1:p.Ala605ValfsTer21
XM_017001272.2:c.1622_1635del	XP_016856761.1:p.Ala541ValfsTer21
NM_000228.3:c.1814_1827del MANE Select	NP_000219.2:p.Ala605ValfsTer21
NM_001017402.2:c.1814_1827del	NP_001017402.1:p.Ala605ValfsTer21