Canonical Allele Identifier: CA1375014

Gene: LAMB3

Linked Data

• dbSNP Id: rs748776162
• ExAC: 1:209791280 AG / A
• gnomAD v2: 1-209791280-AG-A
• gnomAD v4: 1-209617935-AG-A
• MyVariant Identifiers: chr1:g.209791281del (hg19) ; chr1:g.209617936del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209617938del , CM000663.2:g.209617938del	GRCh38
NC_000001.10:g.209791283del , CM000663.1:g.209791283del	GRCh37
NC_000001.9:g.207857906del	NCBI36
NG_007116.1:g.39540del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.3022del MANE Select	ENSP00000348384.3:p.Leu1008PhefsTer22
ENST00000356082.8:c.3022del	ENSP00000348384.3:p.Leu1008PhefsTer22
ENST00000367030.7:c.3022del	ENSP00000355997.3:p.Leu1008PhefsTer22
ENST00000391911.5:c.3022del	ENSP00000375778.1:p.Leu1008PhefsTer22
ENST00000455193.1:c.229del	ENSP00000398683.1:p.Leu77PhefsTer22
NM_000228.2:c.3022del	NP_000219.2:p.Leu1008PhefsTer22
NM_001017402.1:c.3022del	NP_001017402.1:p.Leu1008PhefsTer22
NM_001127641.1:c.3022del	NP_001121113.1:p.Leu1008PhefsTer22
XM_005273124.3:c.3022del	XP_005273181.1:p.Leu1008PhefsTer22
XM_005273124.4:c.3022del	XP_005273181.1:p.Leu1008PhefsTer22
XM_017001272.2:c.2830del	XP_016856761.1:p.Leu944PhefsTer22
NM_000228.3:c.3022del MANE Select	NP_000219.2:p.Leu1008PhefsTer22
NM_001017402.2:c.3022del	NP_001017402.1:p.Leu1008PhefsTer22