Canonical Allele Identifier: CA2674141851
Gene: SMN2 HGNC NCBI

Linked Data

gnomAD v4: 5-70049631-AGTC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70049635_70049637del , CM000667.2:g.70049635_70049637del GRCh38
NC_000005.9:g.69345462_69345464del , CM000667.1:g.69345462_69345464del GRCh37
NC_000005.8:g.69381218_69381220del NCBI36
NG_008728.1:g.5113_5115del

Transcript Alleles

HGVS Amino-acid change
ENST00000380743.8:c.-51_-49del ENSP00000370119.4:n.-51_-49del
NM_017411.3:c.-51_-49del NP_059107.1:n.-51_-49del
NM_022875.2:c.-51_-49del NP_075013.1:n.-51_-49del
NM_022876.2:c.-51_-49del NP_075014.1:n.-51_-49del
NM_022877.2:c.-51_-49del NP_075015.1:n.-51_-49del
XM_011543602.1:c.-51_-49del XP_011541904.1:n.-51_-49del
XM_011543603.1:c.-51_-49del XP_011541905.1:n.-51_-49del
XR_948432.1:n.1054+61631_1054+61633del
XM_011543602.3:c.-51_-49del XP_011541904.1:n.-51_-49del
XM_011543603.3:c.-51_-49del XP_011541905.1:n.-51_-49del
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