Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222353_7222359delinsTCCTGGG , CM000679.2:g.7222353_7222359delinsTCCTGGG	GRCh38
NC_000017.10:g.7125672_7125678delinsTCCTGGG , CM000679.1:g.7125672_7125678delinsTCCTGGG	GRCh37
NC_000017.9:g.7066396_7066402delinsTCCTGGG	NCBI36
NG_007975.1:g.7520_7526delinsTCCTGGG
NG_008391.2:g.2692_2698delinsCCCAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.878+51_878+57delinsTCCTGGG MANE Select	ENSP00000349297.5:n.878+51_878+57delinsTCCTGGG
ENST00000322910.9:c.833+51_833+57delinsTCCTGGG	ENSP00000325395.5:n.833+51_833+57delinsTCCTGGG
ENST00000350303.9:c.812+51_812+57delinsTCCTGGG	ENSP00000344152.5:n.812+51_812+57delinsTCCTGGG
ENST00000356839.9:c.878+51_878+57delinsTCCTGGG	ENSP00000349297.5:n.878+51_878+57delinsTCCTGGG
ENST00000543245.6:c.947+51_947+57delinsTCCTGGG	ENSP00000438689.2:n.947+51_947+57delinsTCCTGGG
ENST00000577191.5:n.1101_1107delinsTCCTGGG
ENST00000581378.5:c.596+51_596+57delinsTCCTGGG
ENST00000582379.1:n.262+51_262+57delinsTCCTGGG
NM_000018.3:c.878+51_878+57delinsTCCTGGG	NP_000009.1:n.878+51_878+57delinsTCCTGGG
NM_001033859.2:c.812+51_812+57delinsTCCTGGG	NP_001029031.1:n.812+51_812+57delinsTCCTGGG
NM_001270447.1:c.947+51_947+57delinsTCCTGGG	NP_001257376.1:n.947+51_947+57delinsTCCTGGG
NM_001270448.1:c.650+51_650+57delinsTCCTGGG	NP_001257377.1:n.650+51_650+57delinsTCCTGGG
XM_006721516.2:c.878+51_878+57delinsTCCTGGG	XP_006721579.2:n.878+51_878+57delinsTCCTGGG
XM_011523829.1:c.878+51_878+57delinsTCCTGGG	XP_011522131.1:n.878+51_878+57delinsTCCTGGG
XM_011523830.1:c.878+51_878+57delinsTCCTGGG	XP_011522132.1:n.878+51_878+57delinsTCCTGGG
XR_934021.1:n.985+51_985+57delinsTCCTGGG
XR_934022.1:n.985+51_985+57delinsTCCTGGG
XR_934023.1:n.985+51_985+57delinsTCCTGGG
XM_006721516.3:c.878+51_878+57delinsTCCTGGG	XP_006721579.2:n.878+51_878+57delinsTCCTGGG
XM_011523829.2:c.878+51_878+57delinsTCCTGGG	XP_011522131.1:n.878+51_878+57delinsTCCTGGG
XM_011523830.2:c.878+51_878+57delinsTCCTGGG	XP_011522132.1:n.878+51_878+57delinsTCCTGGG
XM_024450741.1:c.878+51_878+57delinsTCCTGGG	XP_024306509.1:n.878+51_878+57delinsTCCTGGG
XR_934021.2:n.937+51_937+57delinsTCCTGGG
XR_934022.2:n.937+51_937+57delinsTCCTGGG
XR_934023.2:n.937+51_937+57delinsTCCTGGG
NM_000018.4:c.878+51_878+57delinsTCCTGGG MANE Select	NP_000009.1:n.878+51_878+57delinsTCCTGGG
NM_001033859.3:c.812+51_812+57delinsTCCTGGG	NP_001029031.1:n.812+51_812+57delinsTCCTGGG
NM_001270447.2:c.947+51_947+57delinsTCCTGGG	NP_001257376.1:n.947+51_947+57delinsTCCTGGG
NM_001270448.2:c.650+51_650+57delinsTCCTGGG	NP_001257377.1:n.650+51_650+57delinsTCCTGGG