Canonical Allele Identifier: CA2693053822
Gene: ANOS1 HGNC NCBI

Linked Data

gnomAD v4: X-8587723-A-AT

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8587729dup , CM000685.2:g.8587729dup GRCh38
NC_000023.10:g.8555770dup , CM000685.1:g.8555770dup GRCh37
NC_000023.9:g.8515770dup NCBI36
NG_007088.1:g.149463dup
NG_007088.2:g.149463dup

Transcript Alleles

HGVS Amino-acid change
ENST00000262648.8:c.726+70dup MANE Select ENSP00000262648.3:n.726+70dup
ENST00000262648.7:c.726+70dup ENSP00000262648.3:n.726+70dup
ENST00000619786.1:c.723+70dup ENSP00000478734.1:n.723+70dup
NM_000216.2:c.726+70dup NP_000207.2:n.726+70dup
XM_005274501.3:c.726+70dup XP_005274558.1:n.726+70dup
NM_000216.3:c.726+70dup NP_000207.2:n.726+70dup
XM_005274501.4:c.726+70dup XP_005274558.1:n.726+70dup
NM_000216.4:c.726+70dup MANE Select NP_000207.2:n.726+70dup