Canonical Allele Identifier: CA2246305435
Gene: NDEL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8437548A>T , CM000679.2:g.8437548A>T GRCh38
NC_000017.10:g.8340866A>T , CM000679.1:g.8340866A>T GRCh37
NC_000017.9:g.8281591A>T NCBI36
NG_029963.2:g.6688A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334527.12:c.-13+1503A>T MANE Select ENSP00000333982.7:n.-13+1503A>T
ENST00000334527.11:c.-13+1503A>T ENSP00000333982.7:n.-13+1503A>T
ENST00000380025.8:c.-13+1503A>T ENSP00000369364.4:n.-13+1503A>T
ENST00000402554.7:c.-13+1503A>T ENSP00000384963.3:n.-13+1503A>T
ENST00000579880.5:n.185+1503A>T
ENST00000580012.1:c.-13+854A>T ENSP00000463351.1:n.-13+854A>T
ENST00000580237.5:c.-12-6712A>T ENSP00000464154.1:n.-12-6712A>T
ENST00000580738.5:n.119+1503A>T
ENST00000581189.1:n.44+854A>T
ENST00000582490.5:c.-263+1503A>T ENSP00000462759.1:n.-263+1503A>T
ENST00000582665.5:c.-13+1629A>T ENSP00000463430.1:n.-13+1629A>T
ENST00000582812.5:c.-12-6712A>T ENSP00000462052.1:n.-12-6712A>T
ENST00000583066.5:n.12+1503A>T
ENST00000584866.1:c.-346+1503A>T ENSP00000462458.1:n.-346+1503A>T
ENST00000585098.5:c.-13+1503A>T ENSP00000463492.1:n.-13+1503A>T
NM_001025579.2:c.-13+1503A>T NP_001020750.1:n.-13+1503A>T
NM_030808.4:c.-13+1503A>T NP_110435.1:n.-13+1503A>T
XM_006721580.2:c.-13+1503A>T XP_006721643.1:n.-13+1503A>T
XM_011524012.1:c.-13+1503A>T XP_011522314.1:n.-13+1503A>T
XM_011524013.1:c.-13+1503A>T XP_011522315.1:n.-13+1503A>T
NM_001330129.1:c.-13+1503A>T NP_001317058.1:n.-13+1503A>T
XM_017025183.1:c.-224+1503A>T XP_016880672.1:n.-224+1503A>T
XM_017025184.1:c.-224+1503A>T XP_016880673.1:n.-224+1503A>T
XM_017025185.1:c.-13+854A>T XP_016880674.1:n.-13+854A>T
XM_017025186.1:c.-224+1503A>T XP_016880675.1:n.-224+1503A>T
XM_017025187.1:c.-13+854A>T XP_016880676.1:n.-13+854A>T
XM_017025188.1:c.-224+1503A>T XP_016880677.1:n.-224+1503A>T
NM_001025579.3:c.-13+1503A>T NP_001020750.1:n.-13+1503A>T
NM_001330129.2:c.-13+1503A>T NP_001317058.1:n.-13+1503A>T
NM_030808.5:c.-13+1503A>T MANE Select NP_110435.1:n.-13+1503A>T