Canonical Allele Identifier: CA529000339

Gene: LAMB3

Linked Data

• dbSNP Id: rs1230581153
• gnomAD v2: 1-209806076-GC-G
• gnomAD v4: 1-209632731-GC-G
• MyVariant Identifiers: chr1:g.209806077del (hg19) ; chr1:g.209632732del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209632733del , CM000663.2:g.209632733del	GRCh38
NC_000001.10:g.209806078del , CM000663.1:g.209806078del	GRCh37
NC_000001.9:g.207872701del	NCBI36
NG_007116.1:g.24744del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.673del MANE Select	ENSP00000348384.3:p.Ala225ProfsTer?
ENST00000356082.8:c.673del	ENSP00000348384.3:p.Ala225ProfsTer?
ENST00000367030.7:c.673del	ENSP00000355997.3:p.Ala225ProfsTer?
ENST00000391911.5:c.673del	ENSP00000375778.1:p.Ala225ProfsTer?
NM_000228.2:c.673del	NP_000219.2:p.Ala225ProfsTer?
NM_001017402.1:c.673del	NP_001017402.1:p.Ala225ProfsTer?
NM_001127641.1:c.673del	NP_001121113.1:p.Ala225ProfsTer?
XM_005273124.3:c.673del	XP_005273181.1:p.Ala225ProfsTer?
XM_005273124.4:c.673del	XP_005273181.1:p.Ala225ProfsTer?
XM_017001272.2:c.481del	XP_016856761.1:p.Ala161ProfsTer?
NM_000228.3:c.673del MANE Select	NP_000219.2:p.Ala225ProfsTer?
NM_001017402.2:c.673del	NP_001017402.1:p.Ala225ProfsTer?