Canonical Allele Identifier: CA913072631

Gene: LAMB3

Linked Data

• MyVariant Identifiers: chr1:g.209797292_209797295del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209623947_209623950del , CM000663.2:g.209623947_209623950del	GRCh38
NC_000001.10:g.209797292_209797295del , CM000663.1:g.209797292_209797295del	GRCh37
NC_000001.9:g.207863915_207863918del	NCBI36
NG_007116.1:g.33526_33529del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.2027_2030del MANE Select	ENSP00000348384.3:p.Leu676SerfsTer30
ENST00000356082.8:c.2027_2030del	ENSP00000348384.3:p.Leu676SerfsTer30
ENST00000367030.7:c.2027_2030del	ENSP00000355997.3:p.Leu676SerfsTer30
ENST00000391911.5:c.2027_2030del	ENSP00000375778.1:p.Leu676SerfsTer30
NM_000228.2:c.2027_2030del	NP_000219.2:p.Leu676SerfsTer30
NM_001017402.1:c.2027_2030del	NP_001017402.1:p.Leu676SerfsTer30
NM_001127641.1:c.2027_2030del	NP_001121113.1:p.Leu676SerfsTer30
XM_005273124.3:c.2027_2030del	XP_005273181.1:p.Leu676SerfsTer30
XM_005273124.4:c.2027_2030del	XP_005273181.1:p.Leu676SerfsTer30
XM_017001272.2:c.1835_1838del	XP_016856761.1:p.Leu612SerfsTer30
NM_000228.3:c.2027_2030del MANE Select	NP_000219.2:p.Leu676SerfsTer30
NM_001017402.2:c.2027_2030del	NP_001017402.1:p.Leu676SerfsTer30