Canonical Allele Identifier: CA2525176742

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716343dup , CM000667.2:g.14716343dup GRCh38
NC_000005.9:g.14716452dup , CM000667.1:g.14716452dup GRCh37
NC_000005.8:g.14769452dup NCBI36
NG_008273.1:g.160440dup
NG_008273.2:g.160447dup
NG_051625.1:g.60550dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1141+367dup (ANKH) MANE Select ENSP00000284268.6:n.1141+367dup
ENST00000284268.6:c.1141+367dup (ANKH) ENSP00000284268.6:n.1141+367dup
ENST00000502585.1:n.383+367dup (ANKH)
NM_054027.4:c.1141+367dup (ANKH) NP_473368.1:n.1141+367dup
NR_046285.1:n.2492-79dup
NM_054027.5:c.1141+367dup (ANKH) NP_473368.1:n.1141+367dup
XM_011514151.2:c.*3668dup (OTULIN) XP_011512453.1:n.*3668dup
XM_017009644.2:c.1057+367dup (ANKH) XP_016865133.1:n.1057+367dup
NM_054027.6:c.1141+367dup (ANKH) MANE Select NP_473368.1:n.1141+367dup