Canonical Allele Identifier: CA2650322127

Gene: LAMB3

Linked Data

• gnomAD v4: 1-209632677-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209632680del , CM000663.2:g.209632680del	GRCh38
NC_000001.10:g.209806025del , CM000663.1:g.209806025del	GRCh37
NC_000001.9:g.207872648del	NCBI36
NG_007116.1:g.24798del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.727del MANE Select	ENSP00000348384.3:p.Gln243SerfsTer?
ENST00000356082.8:c.727del	ENSP00000348384.3:p.Gln243SerfsTer?
ENST00000367030.7:c.727del	ENSP00000355997.3:p.Gln243SerfsTer?
ENST00000391911.5:c.727del	ENSP00000375778.1:p.Gln243SerfsTer?
NM_000228.2:c.727del	NP_000219.2:p.Gln243SerfsTer?
NM_001017402.1:c.727del	NP_001017402.1:p.Gln243SerfsTer?
NM_001127641.1:c.727del	NP_001121113.1:p.Gln243SerfsTer?
XM_005273124.3:c.727del	XP_005273181.1:p.Gln243SerfsTer?
XM_005273124.4:c.727del	XP_005273181.1:p.Gln243SerfsTer?
XM_017001272.2:c.535del	XP_016856761.1:p.Gln179SerfsTer?
NM_000228.3:c.727del MANE Select	NP_000219.2:p.Gln243SerfsTer?
NM_001017402.2:c.727del	NP_001017402.1:p.Gln243SerfsTer?