Canonical Allele Identifier: CA16040698

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 371595
• ClinVar RCV Id: RCV000410143
• dbSNP Id: rs1057517395
• MyVariant Identifiers: chr1:g.209803207del (hg19) ; chr1:g.209629862del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209629862del , CM000663.2:g.209629862del	GRCh38
NC_000001.10:g.209803207del , CM000663.1:g.209803207del	GRCh37
NC_000001.9:g.207869830del	NCBI36
NG_007116.1:g.27614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.1007del MANE Select	ENSP00000348384.3:p.Gln336ArgfsTer?
ENST00000356082.8:c.1007del	ENSP00000348384.3:p.Gln336ArgfsTer?
ENST00000367030.7:c.1007del	ENSP00000355997.3:p.Gln336ArgfsTer?
ENST00000391911.5:c.1007del	ENSP00000375778.1:p.Gln336ArgfsTer?
NM_000228.2:c.1007del	NP_000219.2:p.Gln336ArgfsTer?
NM_001017402.1:c.1007del	NP_001017402.1:p.Gln336ArgfsTer?
NM_001127641.1:c.1007del	NP_001121113.1:p.Gln336ArgfsTer?
XM_005273124.3:c.1007del	XP_005273181.1:p.Gln336ArgfsTer?
XM_005273124.4:c.1007del	XP_005273181.1:p.Gln336ArgfsTer?
XM_017001272.2:c.815del	XP_016856761.1:p.Gln272ArgfsTer?
NM_000228.3:c.1007del MANE Select	NP_000219.2:p.Gln336ArgfsTer?
NM_001017402.2:c.1007del	NP_001017402.1:p.Gln336ArgfsTer?