Canonical Allele Identifier: CA2697554870

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 2693175
• ClinVar RCV Id: RCV003543379

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209625831_209625832insA , CM000663.2:g.209625831_209625832insA	GRCh38
NC_000001.10:g.209799176_209799177insA , CM000663.1:g.209799176_209799177insA	GRCh37
NC_000001.9:g.207865799_207865800insA	NCBI36
NG_007116.1:g.31644_31645insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.1792_1793insT MANE Select	ENSP00000348384.3:p.Arg598LeufsTer4
ENST00000356082.8:c.1792_1793insT	ENSP00000348384.3:p.Arg598LeufsTer4
ENST00000367030.7:c.1792_1793insT	ENSP00000355997.3:p.Arg598LeufsTer4
ENST00000391911.5:c.1792_1793insT	ENSP00000375778.1:p.Arg598LeufsTer4
NM_000228.2:c.1792_1793insT	NP_000219.2:p.Arg598LeufsTer4
NM_001017402.1:c.1792_1793insT	NP_001017402.1:p.Arg598LeufsTer4
NM_001127641.1:c.1792_1793insT	NP_001121113.1:p.Arg598LeufsTer4
XM_005273124.3:c.1792_1793insT	XP_005273181.1:p.Arg598LeufsTer4
XM_005273124.4:c.1792_1793insT	XP_005273181.1:p.Arg598LeufsTer4
XM_017001272.2:c.1600_1601insT	XP_016856761.1:p.Arg534LeufsTer4
NM_000228.3:c.1792_1793insT MANE Select	NP_000219.2:p.Arg598LeufsTer4
NM_001017402.2:c.1792_1793insT	NP_001017402.1:p.Arg598LeufsTer4