Canonical Allele Identifier: CA2586967983

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 2734071
• ClinVar RCV Id: RCV003554882

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209617447_209617448delinsTA , CM000663.2:g.209617447_209617448delinsTA	GRCh38
NC_000001.10:g.209790792_209790793delinsTA , CM000663.1:g.209790792_209790793delinsTA	GRCh37
NC_000001.9:g.207857415_207857416delinsTA	NCBI36
NG_007116.1:g.40028_40029delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.3190_3191delinsTA MANE Select	ENSP00000348384.3:p.Ala1064Ter
ENST00000356082.8:c.3190_3191delinsTA	ENSP00000348384.3:p.Ala1064Ter
ENST00000367030.7:c.3190_3191delinsTA	ENSP00000355997.3:p.Ala1064Ter
ENST00000391911.5:c.3190_3191delinsTA	ENSP00000375778.1:p.Ala1064Ter
ENST00000455193.1:c.397_398delinsTA	ENSP00000398683.1:p.Ala133Ter
NM_000228.2:c.3190_3191delinsTA	NP_000219.2:p.Ala1064Ter
NM_001017402.1:c.3190_3191delinsTA	NP_001017402.1:p.Ala1064Ter
NM_001127641.1:c.3190_3191delinsTA	NP_001121113.1:p.Ala1064Ter
XM_005273124.3:c.3190_3191delinsTA	XP_005273181.1:p.Ala1064Ter
XM_005273124.4:c.3190_3191delinsTA	XP_005273181.1:p.Ala1064Ter
XM_017001272.2:c.2998_2999delinsTA	XP_016856761.1:p.Ala1000Ter
NM_000228.3:c.3190_3191delinsTA MANE Select	NP_000219.2:p.Ala1064Ter
NM_001017402.2:c.3190_3191delinsTA	NP_001017402.1:p.Ala1064Ter