Canonical Allele Identifier: CA529000172

Gene: LAMB3

Linked Data

• dbSNP Id: rs1470512203
• gnomAD v2: 1-209791948-AC-A
• MyVariant Identifiers: chr1:g.209791949del (hg19) ; chr1:g.209618604del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209618604del , CM000663.2:g.209618604del	GRCh38
NC_000001.10:g.209791949del , CM000663.1:g.209791949del	GRCh37
NC_000001.9:g.207858572del	NCBI36
NG_007116.1:g.38872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.2757del MANE Select	ENSP00000348384.3:p.Trp920GlyfsTer13
ENST00000356082.8:c.2757del	ENSP00000348384.3:p.Trp920GlyfsTer13
ENST00000367030.7:c.2757del	ENSP00000355997.3:p.Trp920GlyfsTer13
ENST00000391911.5:c.2757del	ENSP00000375778.1:p.Trp920GlyfsTer13
ENST00000455193.1:c.-37del	ENSP00000398683.1:n.-37del
NM_000228.2:c.2757del	NP_000219.2:p.Trp920GlyfsTer13
NM_001017402.1:c.2757del	NP_001017402.1:p.Trp920GlyfsTer13
NM_001127641.1:c.2757del	NP_001121113.1:p.Trp920GlyfsTer13
XM_005273124.3:c.2757del	XP_005273181.1:p.Trp920GlyfsTer13
XM_005273124.4:c.2757del	XP_005273181.1:p.Trp920GlyfsTer13
XM_017001272.2:c.2565del	XP_016856761.1:p.Trp856GlyfsTer13
NM_000228.3:c.2757del MANE Select	NP_000219.2:p.Trp920GlyfsTer13
NM_001017402.2:c.2757del	NP_001017402.1:p.Trp920GlyfsTer13