Canonical Allele Identifier: CA2697554893

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 2711227
• ClinVar RCV Id: RCV003552786
• dbSNP Id: rs1057517290

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209629846_209629847del , CM000663.2:g.209629846_209629847del	GRCh38
NC_000001.10:g.209803191_209803192del , CM000663.1:g.209803191_209803192del	GRCh37
NC_000001.9:g.207869814_207869815del	NCBI36
NG_007116.1:g.27636_27637del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.1029_1030del MANE Select	ENSP00000348384.3:p.Cys343Ter
ENST00000356082.8:c.1029_1030del	ENSP00000348384.3:p.Cys343Ter
ENST00000367030.7:c.1029_1030del	ENSP00000355997.3:p.Cys343Ter
ENST00000391911.5:c.1029_1030del	ENSP00000375778.1:p.Cys343Ter
NM_000228.2:c.1029_1030del	NP_000219.2:p.Cys343Ter
NM_001017402.1:c.1029_1030del	NP_001017402.1:p.Cys343Ter
NM_001127641.1:c.1029_1030del	NP_001121113.1:p.Cys343Ter
XM_005273124.3:c.1029_1030del	XP_005273181.1:p.Cys343Ter
XM_005273124.4:c.1029_1030del	XP_005273181.1:p.Cys343Ter
XM_017001272.2:c.837_838del	XP_016856761.1:p.Cys279Ter
NM_000228.3:c.1029_1030del MANE Select	NP_000219.2:p.Cys343Ter
NM_001017402.2:c.1029_1030del	NP_001017402.1:p.Cys343Ter