Canonical Allele Identifier: CA2580061985

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 1724972
• ClinVar RCV Id: RCV002308031

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209617925del , CM000663.2:g.209617925del	GRCh38
NC_000001.10:g.209791270del , CM000663.1:g.209791270del	GRCh37
NC_000001.9:g.207857893del	NCBI36
NG_007116.1:g.39552del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.3034del MANE Select	ENSP00000348384.3:p.Gln1012ArgfsTer18
ENST00000356082.8:c.3034del	ENSP00000348384.3:p.Gln1012ArgfsTer18
ENST00000367030.7:c.3034del	ENSP00000355997.3:p.Gln1012ArgfsTer18
ENST00000391911.5:c.3034del	ENSP00000375778.1:p.Gln1012ArgfsTer18
ENST00000455193.1:c.241del	ENSP00000398683.1:p.Gln81ArgfsTer18
NM_000228.2:c.3034del	NP_000219.2:p.Gln1012ArgfsTer18
NM_001017402.1:c.3034del	NP_001017402.1:p.Gln1012ArgfsTer18
NM_001127641.1:c.3034del	NP_001121113.1:p.Gln1012ArgfsTer18
XM_005273124.3:c.3034del	XP_005273181.1:p.Gln1012ArgfsTer18
XM_005273124.4:c.3034del	XP_005273181.1:p.Gln1012ArgfsTer18
XM_017001272.2:c.2842del	XP_016856761.1:p.Gln948ArgfsTer18
NM_000228.3:c.3034del MANE Select	NP_000219.2:p.Gln1012ArgfsTer18
NM_001017402.2:c.3034del	NP_001017402.1:p.Gln1012ArgfsTer18