Canonical Allele Identifier: CA1726201290
Gene: SAMD9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93104008_93104014delinsGAGAAGT , CM000669.2:g.93104008_93104014delinsGAGAAGT GRCh38
NC_000007.13:g.92733321_92733327delinsGAGAAGT , CM000669.1:g.92733321_92733327delinsGAGAAGT GRCh37
NC_000007.12:g.92571257_92571263delinsGAGAAGT NCBI36
NG_023419.1:g.19010_19016delinsACTTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2084_2090delinsACTTCTC MANE Select ENSP00000369292.2:p.Tyr695=
ENST00000379958.2:c.2084_2090delinsACTTCTC ENSP00000369292.2:p.Tyr695=
ENST00000446617.1:c.2084_2090delinsACTTCTC ENSP00000414529.1:p.Tyr695=
ENST00000620985.4:c.2084_2090delinsACTTCTC ENSP00000484636.1:p.Tyr695=
NM_001193307.1:c.2084_2090delinsACTTCTC NP_001180236.1:p.Tyr695=
NM_017654.3:c.2084_2090delinsACTTCTC NP_060124.2:p.Tyr695=
NM_017654.4:c.2084_2090delinsACTTCTC MANE Select NP_060124.2:p.Tyr695=
NM_001193307.2:c.2084_2090delinsACTTCTC NP_001180236.1:p.Tyr695=