Canonical Allele Identifier: CA730826659

Gene: LAMB3

Linked Data

• dbSNP Id: rs1338744580
• gnomAD v3: 1-209624256-TCTC-T
• gnomAD v4: 1-209624256-TCTC-T
• MyVariant Identifiers: chr1:g.209797602_209797604del (hg19) ; chr1:g.209624257_209624259del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209624261_209624263del , CM000663.2:g.209624261_209624263del	GRCh38
NC_000001.10:g.209797606_209797608del , CM000663.1:g.209797606_209797608del	GRCh37
NC_000001.9:g.207864229_207864231del	NCBI36
NG_007116.1:g.33217_33219del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.1977-259_1977-257del MANE Select	ENSP00000348384.3:n.1977-259_1977-257del
ENST00000356082.8:c.1977-259_1977-257del	ENSP00000348384.3:n.1977-259_1977-257del
ENST00000367030.7:c.1977-259_1977-257del	ENSP00000355997.3:n.1977-259_1977-257del
ENST00000391911.5:c.1977-259_1977-257del	ENSP00000375778.1:n.1977-259_1977-257del
NM_000228.2:c.1977-259_1977-257del	NP_000219.2:n.1977-259_1977-257del
NM_001017402.1:c.1977-259_1977-257del	NP_001017402.1:n.1977-259_1977-257del
NM_001127641.1:c.1977-259_1977-257del	NP_001121113.1:n.1977-259_1977-257del
XM_005273124.3:c.1977-259_1977-257del	XP_005273181.1:n.1977-259_1977-257del
XM_005273124.4:c.1977-259_1977-257del	XP_005273181.1:n.1977-259_1977-257del
XM_017001272.2:c.1785-259_1785-257del	XP_016856761.1:n.1785-259_1785-257del
NM_000228.3:c.1977-259_1977-257del MANE Select	NP_000219.2:n.1977-259_1977-257del
NM_001017402.2:c.1977-259_1977-257del	NP_001017402.1:n.1977-259_1977-257del