Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223911_7223912delinsCA , CM000679.2:g.7223911_7223912delinsCA	GRCh38
NC_000017.10:g.7127230_7127231delinsCA , CM000679.1:g.7127230_7127231delinsCA	GRCh37
NC_000017.9:g.7067954_7067955delinsCA	NCBI36
NG_007975.1:g.9078_9079delinsCA
NG_008391.2:g.1139_1140delinsTG
NG_033038.1:g.15633_15634delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1332+36_1332+37delinsCA MANE Select	ENSP00000349297.5:n.1332+36_1332+37delinsCA
ENST00000322910.9:c.1287+36_1287+37delinsCA	ENSP00000325395.5:n.1287+36_1287+37delinsCA
ENST00000350303.9:c.1266+36_1266+37delinsCA	ENSP00000344152.5:n.1266+36_1266+37delinsCA
ENST00000356839.9:c.1332+36_1332+37delinsCA	ENSP00000349297.5:n.1332+36_1332+37delinsCA
ENST00000542255.6:c.190+36_190+37delinsCA
ENST00000543245.6:c.1401+36_1401+37delinsCA	ENSP00000438689.2:n.1401+36_1401+37delinsCA
ENST00000578711.1:n.407_408delinsCA
ENST00000579425.5:n.392_393delinsCA
ENST00000579546.1:c.169+36_169+37delinsCA
ENST00000583074.5:n.51+36_51+37delinsCA
ENST00000583850.5:n.107+36_107+37delinsCA
ENST00000583858.5:c.361+36_361+37delinsCA
ENST00000585203.6:n.523+53_523+54delinsCA
NM_000018.3:c.1332+36_1332+37delinsCA	NP_000009.1:n.1332+36_1332+37delinsCA
NM_001033859.2:c.1266+36_1266+37delinsCA	NP_001029031.1:n.1266+36_1266+37delinsCA
NM_001270447.1:c.1401+36_1401+37delinsCA	NP_001257376.1:n.1401+36_1401+37delinsCA
NM_001270448.1:c.1104+36_1104+37delinsCA	NP_001257377.1:n.1104+36_1104+37delinsCA
XM_006721516.2:c.1332+36_1332+37delinsCA	XP_006721579.2:n.1332+36_1332+37delinsCA
XM_011523829.1:c.1332+36_1332+37delinsCA	XP_011522131.1:n.1332+36_1332+37delinsCA
XM_011523830.1:c.1332+36_1332+37delinsCA	XP_011522132.1:n.1332+36_1332+37delinsCA
XR_934021.1:n.1439+36_1439+37delinsCA
XR_934022.1:n.1439+36_1439+37delinsCA
XR_934023.1:n.1439+36_1439+37delinsCA
XM_006721516.3:c.1332+36_1332+37delinsCA	XP_006721579.2:n.1332+36_1332+37delinsCA
XM_011523829.2:c.1332+36_1332+37delinsCA	XP_011522131.1:n.1332+36_1332+37delinsCA
XM_011523830.2:c.1332+36_1332+37delinsCA	XP_011522132.1:n.1332+36_1332+37delinsCA
XM_024450741.1:c.1332+36_1332+37delinsCA	XP_024306509.1:n.1332+36_1332+37delinsCA
XR_934021.2:n.1391+36_1391+37delinsCA
XR_934022.2:n.1391+36_1391+37delinsCA
XR_934023.2:n.1391+36_1391+37delinsCA
NM_000018.4:c.1332+36_1332+37delinsCA MANE Select	NP_000009.1:n.1332+36_1332+37delinsCA
NM_001033859.3:c.1266+36_1266+37delinsCA	NP_001029031.1:n.1266+36_1266+37delinsCA
NM_001270447.2:c.1401+36_1401+37delinsCA	NP_001257376.1:n.1401+36_1401+37delinsCA
NM_001270448.2:c.1104+36_1104+37delinsCA	NP_001257377.1:n.1104+36_1104+37delinsCA