Canonical Allele Identifier: CA2573130650

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 1456607
• ClinVar RCV Id: RCV001951232
• dbSNP Id: rs2102420104

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209625721_209625730del , CM000663.2:g.209625721_209625730del	GRCh38
NC_000001.10:g.209799066_209799075del , CM000663.1:g.209799066_209799075del	GRCh37
NC_000001.9:g.207865689_207865698del	NCBI36
NG_007116.1:g.31752_31761del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.1900_1909del MANE Select	ENSP00000348384.3:p.Ile634PhefsTer?
ENST00000356082.8:c.1900_1909del	ENSP00000348384.3:p.Ile634PhefsTer?
ENST00000367030.7:c.1900_1909del	ENSP00000355997.3:p.Ile634PhefsTer?
ENST00000391911.5:c.1900_1909del	ENSP00000375778.1:p.Ile634PhefsTer?
NM_000228.2:c.1900_1909del	NP_000219.2:p.Ile634PhefsTer?
NM_001017402.1:c.1900_1909del	NP_001017402.1:p.Ile634PhefsTer?
NM_001127641.1:c.1900_1909del	NP_001121113.1:p.Ile634PhefsTer?
XM_005273124.3:c.1900_1909del	XP_005273181.1:p.Ile634PhefsTer?
XM_005273124.4:c.1900_1909del	XP_005273181.1:p.Ile634PhefsTer?
XM_017001272.2:c.1708_1717del	XP_016856761.1:p.Ile570PhefsTer?
NM_000228.3:c.1900_1909del MANE Select	NP_000219.2:p.Ile634PhefsTer?
NM_001017402.2:c.1900_1909del	NP_001017402.1:p.Ile634PhefsTer?