Canonical Allele Identifier: CA2578939272
Gene: SAMD9 HGNC NCBI

Linked Data

gnomAD v4: 7-93104011-AAGT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93104014_93104016del , CM000669.2:g.93104014_93104016del GRCh38
NC_000007.13:g.92733327_92733329del , CM000669.1:g.92733327_92733329del GRCh37
NC_000007.12:g.92571263_92571265del NCBI36
NG_023419.1:g.19010_19012del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2084_2086del MANE Select ENSP00000369292.2:p.Tyr695del
ENST00000379958.2:c.2084_2086del ENSP00000369292.2:p.Tyr695del
ENST00000446617.1:c.2084_2086del ENSP00000414529.1:p.Tyr695del
ENST00000620985.4:c.2084_2086del ENSP00000484636.1:p.Tyr695del
NM_001193307.1:c.2084_2086del NP_001180236.1:p.Tyr695del
NM_017654.3:c.2084_2086del NP_060124.2:p.Tyr695del
NM_017654.4:c.2084_2086del MANE Select NP_060124.2:p.Tyr695del
NM_001193307.2:c.2084_2086del NP_001180236.1:p.Tyr695del
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