Canonical Allele Identifier: CA1132644811

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43958462_43958469del , CM000685.2:g.43958462_43958469del GRCh38
NC_000023.10:g.43817708_43817715del , CM000685.1:g.43817708_43817715del GRCh37
NC_000023.9:g.43702652_43702659del NCBI36
NG_009832.1:g.20207_20214del

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.174+3_174+10del (NDP) MANE Select ENSP00000495972.1:n.174+3_174+10del
ENST00000647044.1:c.174+3_174+10del (NDP) ENSP00000495811.1:n.174+3_174+10del
ENST00000378062.5:c.174+3_174+10del (NDP) ENSP00000367301.5:n.174+3_174+10del
ENST00000470584.1:n.218+249_218+256del (NDP)
NM_000266.3:c.174+3_174+10del (NDP) NP_000257.1:n.174+3_174+10del
NR_046631.1:n.467-2323_467-2316del (NDP-AS1)
NM_000266.4:c.174+3_174+10del (NDP) MANE Select NP_000257.1:n.174+3_174+10del