Canonical Allele Identifier: CA2687993838

Gene: GDF6

Linked Data

• gnomAD v4: 8-96145205-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145207_96145208del , CM000670.2:g.96145207_96145208del	GRCh38
NC_000008.10:g.97157435_97157436del , CM000670.1:g.97157435_97157436del	GRCh37
NC_000008.9:g.97226611_97226612del	NCBI36
NG_008981.1:g.20586_20587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.724_725del MANE Select	ENSP00000287020.4:p.Ala242ArgfsTer?
ENST00000287020.6:c.724_725del	ENSP00000287020.4:p.Ala242ArgfsTer?
ENST00000620978.1:c.706+18_706+19del	ENSP00000480170.1:n.706+18_706+19del
ENST00000621429.1:c.724_725del	ENSP00000483711.1:p.Ala242ArgfsTer?
NM_001001557.2:c.724_725del	NP_001001557.1:p.Ala242ArgfsTer?
XM_011517030.1:c.325_326del	XP_011515332.1:p.Ala109ArgfsTer?
NM_001001557.3:c.724_725del	NP_001001557.1:p.Ala242ArgfsTer?
NM_001001557.4:c.724_725del MANE Select	NP_001001557.1:p.Ala242ArgfsTer?