Canonical Allele Identifier: CA2580061976

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 1726929
• ClinVar RCV Id: RCV002308404

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209634564_209634565delinsTCTTCCTTTG , CM000663.2:g.209634564_209634565delinsTCTTCCTTTG	GRCh38
NC_000001.10:g.209807909_209807910delinsTCTTCCTTTG , CM000663.1:g.209807909_209807910delinsTCTTCCTTTG	GRCh37
NC_000001.9:g.207874532_207874533delinsTCTTCCTTTG	NCBI36
NG_007116.1:g.22911_22912delinsCAAAGGAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.446_447delinsCAAAGGAAGA MANE Select	ENSP00000348384.3:p.Leu149ProfsTer?
ENST00000356082.8:c.446_447delinsCAAAGGAAGA	ENSP00000348384.3:p.Leu149ProfsTer?
ENST00000367030.7:c.446_447delinsCAAAGGAAGA	ENSP00000355997.3:p.Leu149ProfsTer?
ENST00000391911.5:c.446_447delinsCAAAGGAAGA	ENSP00000375778.1:p.Leu149ProfsTer?
ENST00000415782.1:c.446_447delinsCAAAGGAAGA	ENSP00000388960.1:p.Leu149ProfsTer?
NM_000228.2:c.446_447delinsCAAAGGAAGA	NP_000219.2:p.Leu149ProfsTer?
NM_001017402.1:c.446_447delinsCAAAGGAAGA	NP_001017402.1:p.Leu149ProfsTer?
NM_001127641.1:c.446_447delinsCAAAGGAAGA	NP_001121113.1:p.Leu149ProfsTer?
XM_005273124.3:c.446_447delinsCAAAGGAAGA	XP_005273181.1:p.Leu149ProfsTer?
XM_005273124.4:c.446_447delinsCAAAGGAAGA	XP_005273181.1:p.Leu149ProfsTer?
XM_017001272.2:c.373-1432_373-1431delinsCAAAGGAAGA	XP_016856761.1:n.373-1432_373-1431delinsCAAAGGAAGA
NM_000228.3:c.446_447delinsCAAAGGAAGA MANE Select	NP_000219.2:p.Leu149ProfsTer?
NM_001017402.2:c.446_447delinsCAAAGGAAGA	NP_001017402.1:p.Leu149ProfsTer?