Canonical Allele Identifier: CA10631737

Gene: GDF6

Linked Data

• ClinVar Variation Id: 364033
• ClinVar RCV Id: RCV000369646 ; RCV001568245
• dbSNP Id: rs1554571161
• gnomAD v2: 8-97156519-A-AG
• gnomAD v3: 8-96144291-A-AG
• gnomAD v4: 8-96144291-A-AG
• MyVariant Identifiers: chr8:g.97156519_97156520insG (hg19) ; chr8:g.96144291_96144292insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96144291_96144292insG , CM000670.2:g.96144291_96144292insG	GRCh38
NC_000008.10:g.97156519_97156520insG , CM000670.1:g.97156519_97156520insG	GRCh37
NC_000008.9:g.97225695_97225696insG	NCBI36
NG_008981.1:g.21501_21502insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.*271_*272insC MANE Select	ENSP00000287020.4:n.*271_*272insC
ENST00000287020.6:c.*271_*272insC	ENSP00000287020.4:n.*271_*272insC
NM_001001557.2:c.*271_*272insC	NP_001001557.1:n.*271_*272insC
XM_011517030.1:c.*271_*272insC	XP_011515332.1:n.*271_*272insC
NM_001001557.3:c.*271_*272insC	NP_001001557.1:n.*271_*272insC
NM_001001557.4:c.*271_*272insC MANE Select	NP_001001557.1:n.*271_*272insC