Canonical Allele Identifier: CA2693054543
Gene: ANOS1 HGNC NCBI

Linked Data

gnomAD v4: X-8731961-C-CGGCCGCCAGGCAGCCGCTGGA
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8731971_8731991dup , CM000685.2:g.8731971_8731991dup GRCh38
NC_000023.10:g.8700012_8700032dup , CM000685.1:g.8700012_8700032dup GRCh37
NC_000023.9:g.8660012_8660032dup NCBI36
NG_007088.1:g.5205_5225dup
NG_007088.2:g.5205_5225dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.55_75dup MANE Select ENSP00000262648.3:p.Ala25_Gly26insSerSerGlyCysLeuAlaAla
ENST00000262648.7:c.55_75dup ENSP00000262648.3:p.Ala25_Gly26insSerSerGlyCysLeuAlaAla
ENST00000619786.1:c.55_74dup
NM_000216.2:c.55_75dup NP_000207.2:p.Ala25_Gly26insSerSerGlyCysLeuAlaAla
XM_005274501.3:c.55_75dup XP_005274558.1:p.Ala25_Gly26insSerSerGlyCysLeuAlaAla
NM_000216.3:c.55_75dup NP_000207.2:p.Ala25_Gly26insSerSerGlyCysLeuAlaAla
XM_005274501.4:c.55_75dup XP_005274558.1:p.Ala25_Gly26insSerSerGlyCysLeuAlaAla
NM_000216.4:c.55_75dup MANE Select NP_000207.2:p.Ala25_Gly26insSerSerGlyCysLeuAlaAla
Search 100 bp 5'
Search 100 bp 3'