Canonical Allele Identifier: CA1726201377
Gene: SAMD9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93104030_93104031delinsAC , CM000669.2:g.93104030_93104031delinsAC GRCh38
NC_000007.13:g.92733343_92733344delinsAC , CM000669.1:g.92733343_92733344delinsAC GRCh37
NC_000007.12:g.92571279_92571280delinsAC NCBI36
NG_023419.1:g.18993_18994delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2067_2068delinsGT MANE Select ENSP00000369292.2:p.Val689=
ENST00000379958.2:c.2067_2068delinsGT ENSP00000369292.2:p.Val689=
ENST00000446617.1:c.2067_2068delinsGT ENSP00000414529.1:p.Val689=
ENST00000620985.4:c.2067_2068delinsGT ENSP00000484636.1:p.Val689=
NM_001193307.1:c.2067_2068delinsGT NP_001180236.1:p.Val689=
NM_017654.3:c.2067_2068delinsGT NP_060124.2:p.Val689=
NM_017654.4:c.2067_2068delinsGT MANE Select NP_060124.2:p.Val689=
NM_001193307.2:c.2067_2068delinsGT NP_001180236.1:p.Val689=