Canonical Allele Identifier: CA2687993836

Gene: GDF6

Linked Data

• gnomAD v4: 8-96145173-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145177del , CM000670.2:g.96145177del	GRCh38
NC_000008.10:g.97157405del , CM000670.1:g.97157405del	GRCh37
NC_000008.9:g.97226581del	NCBI36
NG_008981.1:g.20619del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.757del MANE Select	ENSP00000287020.4:p.Gln253SerfsTer?
ENST00000287020.6:c.757del	ENSP00000287020.4:p.Gln253SerfsTer?
ENST00000620978.1:c.707-12del	ENSP00000480170.1:n.707-12del
ENST00000621429.1:c.757del	ENSP00000483711.1:p.Gln253SerfsTer?
NM_001001557.2:c.757del	NP_001001557.1:p.Gln253SerfsTer?
XM_011517030.1:c.358del	XP_011515332.1:p.Gln120SerfsTer?
NM_001001557.3:c.757del	NP_001001557.1:p.Gln253SerfsTer?
NM_001001557.4:c.757del MANE Select	NP_001001557.1:p.Gln253SerfsTer?