Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221969_7221973delinsTTCTG , CM000679.2:g.7221969_7221973delinsTTCTG	GRCh38
NC_000017.10:g.7125288_7125292delinsTTCTG , CM000679.1:g.7125288_7125292delinsTTCTG	GRCh37
NC_000017.9:g.7066012_7066016delinsTTCTG	NCBI36
NG_007975.1:g.7136_7140delinsTTCTG
NG_008391.2:g.3078_3082delinsCAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.640_644delinsTTCTG MANE Select	ENSP00000349297.5:p.Phe214=
ENST00000322910.9:c.595_599delinsTTCTG	ENSP00000325395.5:n.595_599delinsTTCTG
ENST00000350303.9:c.574_578delinsTTCTG	ENSP00000344152.5:p.Phe192=
ENST00000356839.9:c.640_644delinsTTCTG	ENSP00000349297.5:p.Phe214=
ENST00000543245.6:c.709_713delinsTTCTG	ENSP00000438689.2:p.Phe237=
ENST00000577191.5:n.717_721delinsTTCTG
ENST00000577857.5:n.456_460delinsTTCTG
ENST00000579286.5:n.821_825delinsTTCTG
ENST00000580365.1:n.371_375delinsTTCTG
ENST00000581378.5:c.358_362delinsTTCTG
ENST00000581562.5:n.542_546delinsTTCTG
ENST00000582379.1:n.24_28delinsTTCTG
ENST00000583312.5:c.655_659delinsTTCTG	ENSP00000467920.1:p.Phe219=
ENST00000583760.1:n.422_426delinsTTCTG
NM_000018.3:c.640_644delinsTTCTG	NP_000009.1:p.Phe214=
NM_001033859.2:c.574_578delinsTTCTG	NP_001029031.1:p.Phe192=
NM_001270447.1:c.709_713delinsTTCTG	NP_001257376.1:p.Phe237=
NM_001270448.1:c.412_416delinsTTCTG	NP_001257377.1:p.Phe138=
XM_006721516.2:c.640_644delinsTTCTG	XP_006721579.2:p.Phe214=
XM_011523829.1:c.640_644delinsTTCTG	XP_011522131.1:p.Phe214=
XM_011523830.1:c.640_644delinsTTCTG	XP_011522132.1:p.Phe214=
XR_934021.1:n.747_751delinsTTCTG
XR_934022.1:n.747_751delinsTTCTG
XR_934023.1:n.747_751delinsTTCTG
XM_006721516.3:c.640_644delinsTTCTG	XP_006721579.2:p.Phe214=
XM_011523829.2:c.640_644delinsTTCTG	XP_011522131.1:p.Phe214=
XM_011523830.2:c.640_644delinsTTCTG	XP_011522132.1:p.Phe214=
XM_024450741.1:c.640_644delinsTTCTG	XP_024306509.1:p.Phe214=
XR_934021.2:n.699_703delinsTTCTG
XR_934022.2:n.699_703delinsTTCTG
XR_934023.2:n.699_703delinsTTCTG
NM_000018.4:c.640_644delinsTTCTG MANE Select	NP_000009.1:p.Phe214=
NM_001033859.3:c.574_578delinsTTCTG	NP_001029031.1:p.Phe192=
NM_001270447.2:c.709_713delinsTTCTG	NP_001257376.1:p.Phe237=
NM_001270448.2:c.412_416delinsTTCTG	NP_001257377.1:p.Phe138=