Canonical Allele Identifier: CA2573143518
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1483523
ClinVar RCV Id: RCV002025454
dbSNP Id: rs2130207135
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145189_96145190delinsTT , CM000670.2:g.96145189_96145190delinsTT GRCh38
NC_000008.10:g.97157417_97157418delinsTT , CM000670.1:g.97157417_97157418delinsTT GRCh37
NC_000008.9:g.97226593_97226594delinsTT NCBI36
NG_008981.1:g.20603_20604delinsAA

Transcript Alleles

HGVS Amino-acid change
ENST00000287020.7:c.741_742delinsAA MANE Select ENSP00000287020.4:p.Arg248Ser
ENST00000287020.6:c.741_742delinsAA ENSP00000287020.4:p.Arg248Ser
ENST00000620978.1:c.707-28_707-27delinsAA ENSP00000480170.1:n.707-28_707-27delinsAA
ENST00000621429.1:c.741_742delinsAA ENSP00000483711.1:p.Arg248Ser
NM_001001557.2:c.741_742delinsAA NP_001001557.1:p.Arg248Ser
XM_011517030.1:c.342_343delinsAA XP_011515332.1:p.Arg115Ser
NM_001001557.3:c.741_742delinsAA NP_001001557.1:p.Arg248Ser
NM_001001557.4:c.741_742delinsAA MANE Select NP_001001557.1:p.Arg248Ser
Search 100 bp 5'
Search 100 bp 3'