Canonical Allele Identifier: CA2580061992

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 2021574
• ClinVar RCV Id: RCV002862756

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209626008del , CM000663.2:g.209626008del	GRCh38
NC_000001.10:g.209799353del , CM000663.1:g.209799353del	GRCh37
NC_000001.9:g.207865976del	NCBI36
NG_007116.1:g.31471del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.1619del MANE Select	ENSP00000348384.3:p.Gly540GlufsTer20
ENST00000356082.8:c.1619del	ENSP00000348384.3:p.Gly540GlufsTer20
ENST00000367030.7:c.1619del	ENSP00000355997.3:p.Gly540GlufsTer20
ENST00000391911.5:c.1619del	ENSP00000375778.1:p.Gly540GlufsTer20
NM_000228.2:c.1619del	NP_000219.2:p.Gly540GlufsTer20
NM_001017402.1:c.1619del	NP_001017402.1:p.Gly540GlufsTer20
NM_001127641.1:c.1619del	NP_001121113.1:p.Gly540GlufsTer20
XM_005273124.3:c.1619del	XP_005273181.1:p.Gly540GlufsTer20
XM_005273124.4:c.1619del	XP_005273181.1:p.Gly540GlufsTer20
XM_017001272.2:c.1427del	XP_016856761.1:p.Gly476GlufsTer20
NM_000228.3:c.1619del MANE Select	NP_000219.2:p.Gly540GlufsTer20
NM_001017402.2:c.1619del	NP_001017402.1:p.Gly540GlufsTer20