Canonical Allele Identifier: CA1116871870

Gene: GDF6

Linked Data

• dbSNP Id: rs1812736294
• gnomAD v3: 8-96160195-AGGGAATTCACAAATGTAGCCTCCAGC-A
• gnomAD v4: 8-96160195-AGGGAATTCACAAATGTAGCCTCCAGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96160201_96160226del , CM000670.2:g.96160201_96160226del	GRCh38
NC_000008.10:g.97172429_97172454del , CM000670.1:g.97172429_97172454del	GRCh37
NC_000008.9:g.97241605_97241630del	NCBI36
NG_008981.1:g.5572_5597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.406+66_406+91del MANE Select	ENSP00000287020.4:n.406+66_406+91del
ENST00000287020.6:c.406+66_406+91del	ENSP00000287020.4:n.406+66_406+91del
ENST00000620978.1:c.406+66_406+91del	ENSP00000480170.1:n.406+66_406+91del
ENST00000621429.1:c.406+66_406+91del	ENSP00000483711.1:n.406+66_406+91del
NM_001001557.2:c.406+66_406+91del	NP_001001557.1:n.406+66_406+91del
NM_001001557.3:c.406+66_406+91del	NP_001001557.1:n.406+66_406+91del
NM_001001557.4:c.406+66_406+91del MANE Select	NP_001001557.1:n.406+66_406+91del