Canonical Allele Identifier: CA9047555

Gene: REEP6

Linked Data

• ExAC: 19:1496302 TGCATGGCTCCCAGGCCCTGGAACGGGGCTCTCATGCTGTATCAGCGCGTCGTGCGTCCGCTGTTCCTAAG / T
• gnomAD v2: 19-1496302-TGCATGGCTCCCAGGCCCTGGAACGGGGCTCTCATGCTGTATCAGCGCGTCGTGCGTCCGCTGTTCCTAAG-T
• gnomAD v4: 19-1496303-TGCATGGCTCCCAGGCCCTGGAACGGGGCTCTCATGCTGTATCAGCGCGTCGTGCGTCCGCTGTTCCTAAG-T
• MyVariant Identifiers: chr19:g.1496303_1496372del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1496307_1496376del , CM000681.2:g.1496307_1496376del	GRCh38
NC_000019.9:g.1496306_1496375del , CM000681.1:g.1496306_1496375del	GRCh37
NC_000019.8:g.1447306_1447375del	NCBI36
NG_055254.1:g.10303_10372del

Transcript Alleles

HGVS	Amino-acid change
ENST00000233596.8:c.371_440del MANE Select	ENSP00000233596.2:p.Met124ThrfsTer5
ENST00000395479.10:c.371_440del MANE Plus Clinical	ENSP00000378861.5:p.Met124ThrfsTer5
ENST00000233596.7:c.371_440del	ENSP00000233596.2:p.Met124ThrfsTer5
ENST00000395479.8:c.187_256del
ENST00000395484.4:c.155_224del	ENSP00000378865.4:p.Met52ThrfsTer5
NM_138393.1:c.371_440del	NP_612402.1:p.Met124ThrfsTer5
NM_001329556.2:c.371_440del	NP_001316485.1:p.Met124ThrfsTer5
NM_138393.3:c.371_440del	NP_612402.1:p.Met124ThrfsTer5
NM_138393.4:c.371_440del MANE Select	NP_612402.1:p.Met124ThrfsTer5
NM_001329556.3:c.371_440del MANE Plus Clinical	NP_001316485.1:p.Met124ThrfsTer5