Canonical Allele Identifier: CA658822565

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 558689
• ClinVar RCV Id: RCV000674996
• dbSNP Id: rs1553276488
• MyVariant Identifiers: chr1:g.209623850_209623869del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209623851_209623870del , CM000663.2:g.209623851_209623870del	GRCh38
NC_000001.10:g.209797196_209797215del , CM000663.1:g.209797196_209797215del	GRCh37
NC_000001.9:g.207863819_207863838del	NCBI36
NG_007116.1:g.33607_33626del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.2108_2127del MANE Select	ENSP00000348384.3:p.Phe703Ter
ENST00000356082.8:c.2108_2127del	ENSP00000348384.3:p.Phe703Ter
ENST00000367030.7:c.2108_2127del	ENSP00000355997.3:p.Phe703Ter
ENST00000391911.5:c.2108_2127del	ENSP00000375778.1:p.Phe703Ter
NM_000228.2:c.2108_2127del	NP_000219.2:p.Phe703Ter
NM_001017402.1:c.2108_2127del	NP_001017402.1:p.Phe703Ter
NM_001127641.1:c.2108_2127del	NP_001121113.1:p.Phe703Ter
XM_005273124.3:c.2108_2127del	XP_005273181.1:p.Phe703Ter
XM_005273124.4:c.2108_2127del	XP_005273181.1:p.Phe703Ter
XM_017001272.2:c.1916_1935del	XP_016856761.1:p.Phe639Ter
NM_000228.3:c.2108_2127del MANE Select	NP_000219.2:p.Phe703Ter
NM_001017402.2:c.2108_2127del	NP_001017402.1:p.Phe703Ter