Canonical Allele Identifier: CA2586964550

Gene: LAMB3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209625657_209625658dup , CM000663.2:g.209625657_209625658dup	GRCh38
NC_000001.10:g.209799002_209799003dup , CM000663.1:g.209799002_209799003dup	GRCh37
NC_000001.9:g.207865625_207865626dup	NCBI36
NG_007116.1:g.31821_31822dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.1969_1970dup MANE Select	ENSP00000348384.3:p.Leu658ProfsTer?
ENST00000356082.8:c.1969_1970dup	ENSP00000348384.3:p.Leu658ProfsTer?
ENST00000367030.7:c.1969_1970dup	ENSP00000355997.3:p.Leu658ProfsTer?
ENST00000391911.5:c.1969_1970dup	ENSP00000375778.1:p.Leu658ProfsTer?
NM_000228.2:c.1969_1970dup	NP_000219.2:p.Leu658ProfsTer?
NM_001017402.1:c.1969_1970dup	NP_001017402.1:p.Leu658ProfsTer?
NM_001127641.1:c.1969_1970dup	NP_001121113.1:p.Leu658ProfsTer?
XM_005273124.3:c.1969_1970dup	XP_005273181.1:p.Leu658ProfsTer?
XM_005273124.4:c.1969_1970dup	XP_005273181.1:p.Leu658ProfsTer?
XM_017001272.2:c.1777_1778dup	XP_016856761.1:p.Leu594ProfsTer?
NM_000228.3:c.1969_1970dup MANE Select	NP_000219.2:p.Leu658ProfsTer?
NM_001017402.2:c.1969_1970dup	NP_001017402.1:p.Leu658ProfsTer?