Canonical Allele Identifier: CA1657314534

Gene: RSPH4A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116632430_116632433delinsGATT , CM000668.2:g.116632430_116632433delinsGATT	GRCh38
NC_000006.11:g.116953593_116953596delinsGATT , CM000668.1:g.116953593_116953596delinsGATT	GRCh37
NC_000006.10:g.117060286_117060289delinsGATT	NCBI36
NG_012934.1:g.20952_20955delinsGATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229554.10:c.2140_2143delinsGATT MANE Select	ENSP00000229554.5:p.Asp714=
ENST00000229554.9:c.2140_2143delinsGATT	ENSP00000229554.5:p.Asp714=
ENST00000368580.4:c.1399_1402delinsGATT	ENSP00000357569.4:p.Asp467=
ENST00000368581.8:c.*201_*204delinsGATT	ENSP00000357570.4:n.*201_*204delinsGATT
NM_001010892.2:c.2140_2143delinsGATT	NP_001010892.1:p.Asp714=
NM_001161664.1:c.*201_*204delinsGATT	NP_001155136.1:n.*201_*204delinsGATT
XM_006715469.2:c.*201_*204delinsGATT	XP_006715532.1:n.*201_*204delinsGATT
XM_011535791.1:c.2140_2143delinsGATT	XP_011534093.1:p.Asp714=
XM_011535792.1:c.2140_2143delinsGATT	XP_011534094.1:p.Asp714=
XM_017010826.1:c.*201_*204delinsGATT	XP_016866315.1:n.*201_*204delinsGATT
NM_001010892.3:c.2140_2143delinsGATT MANE Select	NP_001010892.1:p.Asp714=
NM_001161664.2:c.*201_*204delinsGATT	NP_001155136.1:n.*201_*204delinsGATT