Canonical Allele Identifier: CA528652453

Gene: LAMB3

Linked Data

• dbSNP Id: rs1558147370
• gnomAD v2: 1-209791286-CG-C
• gnomAD v4: 1-209617941-CG-C
• MyVariant Identifiers: chr1:g.209791287del (hg19) ; chr1:g.209617942del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209617943del , CM000663.2:g.209617943del	GRCh38
NC_000001.10:g.209791288del , CM000663.1:g.209791288del	GRCh37
NC_000001.9:g.207857911del	NCBI36
NG_007116.1:g.39534del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.3016del MANE Select	ENSP00000348384.3:p.Arg1006AlafsTer24
ENST00000356082.8:c.3016del	ENSP00000348384.3:p.Arg1006AlafsTer24
ENST00000367030.7:c.3016del	ENSP00000355997.3:p.Arg1006AlafsTer24
ENST00000391911.5:c.3016del	ENSP00000375778.1:p.Arg1006AlafsTer24
ENST00000455193.1:c.223del	ENSP00000398683.1:p.Arg75AlafsTer24
NM_000228.2:c.3016del	NP_000219.2:p.Arg1006AlafsTer24
NM_001017402.1:c.3016del	NP_001017402.1:p.Arg1006AlafsTer24
NM_001127641.1:c.3016del	NP_001121113.1:p.Arg1006AlafsTer24
XM_005273124.3:c.3016del	XP_005273181.1:p.Arg1006AlafsTer24
XM_005273124.4:c.3016del	XP_005273181.1:p.Arg1006AlafsTer24
XM_017001272.2:c.2824del	XP_016856761.1:p.Arg942AlafsTer24
NM_000228.3:c.3016del MANE Select	NP_000219.2:p.Arg1006AlafsTer24
NM_001017402.2:c.3016del	NP_001017402.1:p.Arg1006AlafsTer24