Canonical Allele Identifier: CA529000141

Gene: LAMB3

Linked Data

• dbSNP Id: rs1558146886
• gnomAD v2: 1-209790769-ATGCC-A
• gnomAD v4: 1-209617424-ATGCC-A
• MyVariant Identifiers: chr1:g.209790770_209790773del (hg19) ; chr1:g.209617425_209617428del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209617428_209617431del , CM000663.2:g.209617428_209617431del	GRCh38
NC_000001.10:g.209790773_209790776del , CM000663.1:g.209790773_209790776del	GRCh37
NC_000001.9:g.207857396_207857399del	NCBI36
NG_007116.1:g.40048_40051del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.3210_3213del MANE Select	ENSP00000348384.3:p.Gln1070HisfsTer2
ENST00000356082.8:c.3210_3213del	ENSP00000348384.3:p.Gln1070HisfsTer2
ENST00000367030.7:c.3210_3213del	ENSP00000355997.3:p.Gln1070HisfsTer2
ENST00000391911.5:c.3210_3213del	ENSP00000375778.1:p.Gln1070HisfsTer2
ENST00000455193.1:c.417_420del	ENSP00000398683.1:p.Gln139HisfsTer2
NM_000228.2:c.3210_3213del	NP_000219.2:p.Gln1070HisfsTer2
NM_001017402.1:c.3210_3213del	NP_001017402.1:p.Gln1070HisfsTer2
NM_001127641.1:c.3210_3213del	NP_001121113.1:p.Gln1070HisfsTer2
XM_005273124.3:c.3210_3213del	XP_005273181.1:p.Gln1070HisfsTer2
XM_005273124.4:c.3210_3213del	XP_005273181.1:p.Gln1070HisfsTer2
XM_017001272.2:c.3018_3021del	XP_016856761.1:p.Gln1006HisfsTer2
NM_000228.3:c.3210_3213del MANE Select	NP_000219.2:p.Gln1070HisfsTer2
NM_001017402.2:c.3210_3213del	NP_001017402.1:p.Gln1070HisfsTer2