Canonical Allele Identifier: CA1375293

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 591117
• ClinVar RCV Id: RCV000722293
• dbSNP Id: rs752460751
• ExAC: 1:209796925 GCCT / G
• gnomAD v2: 1-209796925-GCCT-G
• gnomAD v4: 1-209623580-GCCT-G
• MyVariant Identifiers: chr1:g.209796926_209796928del (hg19) ; chr1:g.209623581_209623583del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209623592_209623594del , CM000663.2:g.209623592_209623594del	GRCh38
NC_000001.10:g.209796937_209796939del , CM000663.1:g.209796937_209796939del	GRCh37
NC_000001.9:g.207863560_207863562del	NCBI36
NG_007116.1:g.33893_33895del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.2280_2282del MANE Select	ENSP00000348384.3:p.Gly761del
ENST00000356082.8:c.2280_2282del	ENSP00000348384.3:p.Gly761del
ENST00000367030.7:c.2280_2282del	ENSP00000355997.3:p.Gly761del
ENST00000391911.5:c.2280_2282del	ENSP00000375778.1:p.Gly761del
NM_000228.2:c.2280_2282del	NP_000219.2:p.Gly761del
NM_001017402.1:c.2280_2282del	NP_001017402.1:p.Gly761del
NM_001127641.1:c.2280_2282del	NP_001121113.1:p.Gly761del
XM_005273124.3:c.2280_2282del	XP_005273181.1:p.Gly761del
XM_005273124.4:c.2280_2282del	XP_005273181.1:p.Gly761del
XM_017001272.2:c.2088_2090del	XP_016856761.1:p.Gly697del
NM_000228.3:c.2280_2282del MANE Select	NP_000219.2:p.Gly761del
NM_001017402.2:c.2280_2282del	NP_001017402.1:p.Gly761del