Canonical Allele Identifier: CA2580062015

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 2033260
• ClinVar RCV Id: RCV002881792

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209630697del , CM000663.2:g.209630697del	GRCh38
NC_000001.10:g.209804042del , CM000663.1:g.209804042del	GRCh37
NC_000001.9:g.207870665del	NCBI36
NG_007116.1:g.26781del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.863del MANE Select	ENSP00000348384.3:p.Pro288GlnfsTer?
ENST00000356082.8:c.863del	ENSP00000348384.3:p.Pro288GlnfsTer?
ENST00000367030.7:c.863del	ENSP00000355997.3:p.Pro288GlnfsTer?
ENST00000391911.5:c.863del	ENSP00000375778.1:p.Pro288GlnfsTer?
NM_000228.2:c.863del	NP_000219.2:p.Pro288GlnfsTer?
NM_001017402.1:c.863del	NP_001017402.1:p.Pro288GlnfsTer?
NM_001127641.1:c.863del	NP_001121113.1:p.Pro288GlnfsTer?
XM_005273124.3:c.863del	XP_005273181.1:p.Pro288GlnfsTer?
XM_005273124.4:c.863del	XP_005273181.1:p.Pro288GlnfsTer?
XM_017001272.2:c.671del	XP_016856761.1:p.Pro224GlnfsTer?
NM_000228.3:c.863del MANE Select	NP_000219.2:p.Pro288GlnfsTer?
NM_001017402.2:c.863del	NP_001017402.1:p.Pro288GlnfsTer?