Canonical Allele Identifier: CA2579590500

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949796del , CM000685.2:g.43949796del GRCh38
NC_000023.10:g.43809042del , CM000685.1:g.43809042del GRCh37
NC_000023.9:g.43693986del NCBI36
NG_009832.1:g.28882del

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.*5del (NDP) MANE Select ENSP00000495972.1:n.*5del
ENST00000647044.1:c.*5del (NDP) ENSP00000495811.1:n.*5del
ENST00000378062.5:c.*5del (NDP) ENSP00000367301.5:n.*5del
ENST00000470584.1:n.451del (NDP)
NM_000266.3:c.*5del (NDP) NP_000257.1:n.*5del
NR_046631.1:n.65del (NDP-AS1)
NM_000266.4:c.*5del (NDP) MANE Select NP_000257.1:n.*5del