Canonical Allele Identifier: CA3992187
Community Standard Title: NM_000426.4(LAMA2):c.-17del
Gene: LAMA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.128883229del , CM000668.2:g.128883229del GRCh38
NC_000006.11:g.129204374del , CM000668.1:g.129204374del GRCh37
NC_000006.10:g.129246067del NCBI36
NG_008678.1:g.5089del , LRG_409:g.5089del

Transcript Alleles

HGVS Amino-acid Change
NM_000426.4:c.-17del MANE Select NP_000417.3:n.-17del
ENST00000421865.3:c.-17del MANE Select ENSP00000400365.2:n.-17del
NM_000426.3:c.-17del , LRG_409t1:c.-17del NP_000417.2:n.-17del
NM_001079823.1:c.-17del NP_001073291.1:n.-17del
NM_001079823.2:c.-17del NP_001073291.2:n.-17del
ENST00000421865.2:c.-17del ENSP00000400365.2:n.-17del
ENST00000617695.4:c.-17del ENSP00000481744.1:n.-17del
ENST00000617695.5:c.-17del ENSP00000481744.2:n.-17del
ENST00000618192.4:c.-17del ENSP00000480802.1:n.-17del
ENST00000618192.5:c.-17del ENSP00000480802.2:n.-17del
ENST00000686577.1:n.50del
ENST00000686599.1:n.89del
XM_005266981.2:c.-17del XP_005267038.1:n.-17del
XM_005266981.3:c.-17del XP_005267038.1:n.-17del
XM_005266982.2:c.-17del XP_005267039.1:n.-17del
XM_005266982.3:c.-17del XP_005267039.1:n.-17del
XM_011535820.1:c.-17del XP_011534122.1:n.-17del
XM_011535820.2:c.-17del XP_011534122.1:n.-17del
XM_017010853.1:c.-17del XP_016866342.1:n.-17del