Canonical Allele Identifier: CA2583000645

Gene: REEP6

Linked Data

• gnomAD v4: 19-1496218-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1496219del , CM000681.2:g.1496219del	GRCh38
NC_000019.9:g.1496218del , CM000681.1:g.1496218del	GRCh37
NC_000019.8:g.1447218del	NCBI36
NG_055254.1:g.10215del

Transcript Alleles

HGVS	Amino-acid change
ENST00000233596.8:c.349-66del MANE Select	ENSP00000233596.2:n.349-66del
ENST00000395479.10:c.349-66del MANE Plus Clinical	ENSP00000378861.5:n.349-66del
ENST00000233596.7:c.349-66del	ENSP00000233596.2:n.349-66del
ENST00000395479.8:c.165-66del
ENST00000395484.4:c.133-66del	ENSP00000378865.4:n.133-66del
NM_138393.1:c.349-66del	NP_612402.1:n.349-66del
NM_001329556.2:c.349-66del	NP_001316485.1:n.349-66del
NM_138393.3:c.349-66del	NP_612402.1:n.349-66del
NM_138393.4:c.349-66del MANE Select	NP_612402.1:n.349-66del
NM_001329556.3:c.349-66del MANE Plus Clinical	NP_001316485.1:n.349-66del