Canonical Allele Identifier: CA1732882878
Community Standard Title: NM_002291.3(LAMB1):c.1562+174_1562+186delinsAGTCAAAGTACAT
Gene: LAMB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107972806_107972818delinsATGTACTTTGACT , CM000669.2:g.107972806_107972818delinsATGTACTTTGACT GRCh38
NC_000007.13:g.107613251_107613263delinsATGTACTTTGACT , CM000669.1:g.107613251_107613263delinsATGTACTTTGACT GRCh37
NC_000007.12:g.107400487_107400499delinsATGTACTTTGACT NCBI36
NG_023255.1:g.35542_35554delinsAGTCAAAGTACAT

Transcript Alleles

HGVS Amino-acid Change
NM_002291.3:c.1562+174_1562+186delinsAGTCAAAGTACAT MANE Select NP_002282.2:n.1562+174_1562+186delinsAGTCAAAGTACAT
ENST00000222399.11:c.1562+174_1562+186delinsAGTCAAAGTACAT MANE Select ENSP00000222399.6:n.1562+174_1562+186delinsAGTCAAAGTACAT
NM_002291.2:c.1562+174_1562+186delinsAGTCAAAGTACAT NP_002282.2:n.1562+174_1562+186delinsAGTCAAAGTACAT
ENST00000222399.10:c.1562+174_1562+186delinsAGTCAAAGTACAT ENSP00000222399.6:n.1562+174_1562+186delinsAGTCAAAGTACAT
ENST00000393560.5:c.1562+174_1562+186delinsAGTCAAAGTACAT ENSP00000377190.1:n.1562+174_1562+186delinsAGTCAAAGTACAT
ENST00000393561.5:c.1634+174_1634+186delinsAGTCAAAGTACAT ENSP00000377191.1:n.1634+174_1634+186delinsAGTCAAAGTACAT
ENST00000393561.6:c.1151+174_1151+186delinsAGTCAAAGTACAT ENSP00000377191.2:n.1151+174_1151+186delinsAGTCAAAGTACAT
ENST00000439976.6:c.1820+174_1820+186delinsAGTCAAAGTACAT ENSP00000412686.2:n.1820+174_1820+186delinsAGTCAAAGTACAT
ENST00000676574.1:c.1562+174_1562+186delinsAGTCAAAGTACAT ENSP00000503081.1:n.1562+174_1562+186delinsAGTCAAAGTACAT
ENST00000676777.1:c.1562+174_1562+186delinsAGTCAAAGTACAT ENSP00000504756.1:n.1562+174_1562+186delinsAGTCAAAGTACAT
ENST00000676920.1:c.1151+174_1151+186delinsAGTCAAAGTACAT ENSP00000503814.1:n.1151+174_1151+186delinsAGTCAAAGTACAT
ENST00000677101.1:c.*1198+174_*1198+186delinsAGTCAAAGTACAT ENSP00000503156.1:n.*1198+174_*1198+186delinsAGTCAAAGTACAT
ENST00000677144.1:c.1562+174_1562+186delinsAGTCAAAGTACAT ENSP00000503049.1:n.1562+174_1562+186delinsAGTCAAAGTACAT
ENST00000677485.1:n.2786+174_2786+186delinsAGTCAAAGTACAT
ENST00000677588.1:c.1562+174_1562+186delinsAGTCAAAGTACAT ENSP00000502938.1:n.1562+174_1562+186delinsAGTCAAAGTACAT
ENST00000677652.1:n.1751+174_1751+186delinsAGTCAAAGTACAT
ENST00000677734.1:n.1751+174_1751+186delinsAGTCAAAGTACAT
ENST00000677793.1:c.1562+174_1562+186delinsAGTCAAAGTACAT ENSP00000504020.1:n.1562+174_1562+186delinsAGTCAAAGTACAT
ENST00000677801.1:c.1151+174_1151+186delinsAGTCAAAGTACAT ENSP00000503438.1:n.1151+174_1151+186delinsAGTCAAAGTACAT
ENST00000677994.1:n.1728+174_1728+186delinsAGTCAAAGTACAT
ENST00000678232.1:n.1751+174_1751+186delinsAGTCAAAGTACAT
ENST00000678266.1:n.1704+174_1704+186delinsAGTCAAAGTACAT
ENST00000678346.1:c.*1198+174_*1198+186delinsAGTCAAAGTACAT ENSP00000504349.1:n.*1198+174_*1198+186delinsAGTCAAAGTACAT
ENST00000678698.1:c.1151+174_1151+186delinsAGTCAAAGTACAT ENSP00000503198.1:n.1151+174_1151+186delinsAGTCAAAGTACAT
ENST00000678704.1:c.*144+174_*144+186delinsAGTCAAAGTACAT ENSP00000504589.1:n.*144+174_*144+186delinsAGTCAAAGTACAT
ENST00000678892.1:c.1562+174_1562+186delinsAGTCAAAGTACAT ENSP00000504841.1:n.1562+174_1562+186delinsAGTCAAAGTACAT
ENST00000679173.1:n.1751+174_1751+186delinsAGTCAAAGTACAT
ENST00000679200.1:c.1151+174_1151+186delinsAGTCAAAGTACAT ENSP00000503498.1:n.1151+174_1151+186delinsAGTCAAAGTACAT
ENST00000679244.1:c.1562+174_1562+186delinsAGTCAAAGTACAT ENSP00000504656.1:n.1562+174_1562+186delinsAGTCAAAGTACAT
XM_011516203.1:c.1562+174_1562+186delinsAGTCAAAGTACAT XP_011514505.1:n.1562+174_1562+186delinsAGTCAAAGTACAT
XM_017012201.1:c.1634+174_1634+186delinsAGTCAAAGTACAT XP_016867690.1:n.1634+174_1634+186delinsAGTCAAAGTACAT
XM_017012202.1:c.1634+174_1634+186delinsAGTCAAAGTACAT XP_016867691.1:n.1634+174_1634+186delinsAGTCAAAGTACAT
XR_001744756.1:n.2365+174_2365+186delinsAGTCAAAGTACAT