Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223803_7223804del , CM000679.2:g.7223803_7223804del	GRCh38
NC_000017.10:g.7127122_7127123del , CM000679.1:g.7127122_7127123del	GRCh37
NC_000017.9:g.7067846_7067847del	NCBI36
NG_007975.1:g.8970_8971del
NG_008391.2:g.1248_1249del
NG_033038.1:g.15742_15743del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1270-10_1270-9del MANE Select	ENSP00000349297.5:n.1270-10_1270-9del
ENST00000322910.9:c.1225-10_1225-9del	ENSP00000325395.5:n.1225-10_1225-9del
ENST00000350303.9:c.1204-10_1204-9del	ENSP00000344152.5:n.1204-10_1204-9del
ENST00000356839.9:c.1270-10_1270-9del	ENSP00000349297.5:n.1270-10_1270-9del
ENST00000542255.6:c.128-10_128-9del
ENST00000543245.6:c.1339-10_1339-9del	ENSP00000438689.2:n.1339-10_1339-9del
ENST00000578579.2:n.441-10_441-9del
ENST00000578711.1:n.299_300del
ENST00000578824.5:n.686-10_686-9del
ENST00000579425.5:n.294-10_294-9del
ENST00000579546.1:c.107-10_107-9del
ENST00000583850.5:n.45-10_45-9del
ENST00000583858.5:c.299-10_299-9del
ENST00000585203.6:n.478-10_478-9del
NM_000018.3:c.1270-10_1270-9del	NP_000009.1:n.1270-10_1270-9del
NM_001033859.2:c.1204-10_1204-9del	NP_001029031.1:n.1204-10_1204-9del
NM_001270447.1:c.1339-10_1339-9del	NP_001257376.1:n.1339-10_1339-9del
NM_001270448.1:c.1042-10_1042-9del	NP_001257377.1:n.1042-10_1042-9del
XM_006721516.2:c.1270-10_1270-9del	XP_006721579.2:n.1270-10_1270-9del
XM_011523829.1:c.1270-10_1270-9del	XP_011522131.1:n.1270-10_1270-9del
XM_011523830.1:c.1270-10_1270-9del	XP_011522132.1:n.1270-10_1270-9del
XR_934021.1:n.1377-10_1377-9del
XR_934022.1:n.1377-10_1377-9del
XR_934023.1:n.1377-10_1377-9del
XM_006721516.3:c.1270-10_1270-9del	XP_006721579.2:n.1270-10_1270-9del
XM_011523829.2:c.1270-10_1270-9del	XP_011522131.1:n.1270-10_1270-9del
XM_011523830.2:c.1270-10_1270-9del	XP_011522132.1:n.1270-10_1270-9del
XM_024450741.1:c.1270-10_1270-9del	XP_024306509.1:n.1270-10_1270-9del
XR_934021.2:n.1329-10_1329-9del
XR_934022.2:n.1329-10_1329-9del
XR_934023.2:n.1329-10_1329-9del
NM_000018.4:c.1270-10_1270-9del MANE Select	NP_000009.1:n.1270-10_1270-9del
NM_001033859.3:c.1204-10_1204-9del	NP_001029031.1:n.1204-10_1204-9del
NM_001270447.2:c.1339-10_1339-9del	NP_001257376.1:n.1339-10_1339-9del
NM_001270448.2:c.1042-10_1042-9del	NP_001257377.1:n.1042-10_1042-9del