Canonical Allele Identifier: CA831219859
Community Standard Title: NM_002291.3(LAMB1):c.1562+174_1562+185del
Gene: LAMB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107972808_107972819del , CM000669.2:g.107972808_107972819del GRCh38
NC_000007.13:g.107613253_107613264del , CM000669.1:g.107613253_107613264del GRCh37
NC_000007.12:g.107400489_107400500del NCBI36
NG_023255.1:g.35542_35553del

Transcript Alleles

HGVS Amino-acid Change
NM_002291.3:c.1562+174_1562+185del MANE Select NP_002282.2:n.1562+174_1562+185del
ENST00000222399.11:c.1562+174_1562+185del MANE Select ENSP00000222399.6:n.1562+174_1562+185del
NM_002291.2:c.1562+174_1562+185del NP_002282.2:n.1562+174_1562+185del
ENST00000222399.10:c.1562+174_1562+185del ENSP00000222399.6:n.1562+174_1562+185del
ENST00000393560.5:c.1562+174_1562+185del ENSP00000377190.1:n.1562+174_1562+185del
ENST00000393561.5:c.1634+174_1634+185del ENSP00000377191.1:n.1634+174_1634+185del
ENST00000393561.6:c.1151+174_1151+185del ENSP00000377191.2:n.1151+174_1151+185del
ENST00000439976.6:c.1820+174_1820+185del ENSP00000412686.2:n.1820+174_1820+185del
ENST00000676574.1:c.1562+174_1562+185del ENSP00000503081.1:n.1562+174_1562+185del
ENST00000676777.1:c.1562+174_1562+185del ENSP00000504756.1:n.1562+174_1562+185del
ENST00000676920.1:c.1151+174_1151+185del ENSP00000503814.1:n.1151+174_1151+185del
ENST00000677101.1:c.*1198+174_*1198+185del ENSP00000503156.1:n.*1198+174_*1198+185del
ENST00000677144.1:c.1562+174_1562+185del ENSP00000503049.1:n.1562+174_1562+185del
ENST00000677485.1:n.2786+174_2786+185del
ENST00000677588.1:c.1562+174_1562+185del ENSP00000502938.1:n.1562+174_1562+185del
ENST00000677652.1:n.1751+174_1751+185del
ENST00000677734.1:n.1751+174_1751+185del
ENST00000677793.1:c.1562+174_1562+185del ENSP00000504020.1:n.1562+174_1562+185del
ENST00000677801.1:c.1151+174_1151+185del ENSP00000503438.1:n.1151+174_1151+185del
ENST00000677994.1:n.1728+174_1728+185del
ENST00000678232.1:n.1751+174_1751+185del
ENST00000678266.1:n.1704+174_1704+185del
ENST00000678346.1:c.*1198+174_*1198+185del ENSP00000504349.1:n.*1198+174_*1198+185del
ENST00000678698.1:c.1151+174_1151+185del ENSP00000503198.1:n.1151+174_1151+185del
ENST00000678704.1:c.*144+174_*144+185del ENSP00000504589.1:n.*144+174_*144+185del
ENST00000678892.1:c.1562+174_1562+185del ENSP00000504841.1:n.1562+174_1562+185del
ENST00000679173.1:n.1751+174_1751+185del
ENST00000679200.1:c.1151+174_1151+185del ENSP00000503498.1:n.1151+174_1151+185del
ENST00000679244.1:c.1562+174_1562+185del ENSP00000504656.1:n.1562+174_1562+185del
XM_011516203.1:c.1562+174_1562+185del XP_011514505.1:n.1562+174_1562+185del
XM_017012201.1:c.1634+174_1634+185del XP_016867690.1:n.1634+174_1634+185del
XM_017012202.1:c.1634+174_1634+185del XP_016867691.1:n.1634+174_1634+185del
XR_001744756.1:n.2365+174_2365+185del