Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220109_7220110insA , CM000679.2:g.7220109_7220110insA	GRCh38
NC_000017.10:g.7123428_7123429insA , CM000679.1:g.7123428_7123429insA	GRCh37
NC_000017.9:g.7064152_7064153insA	NCBI36
NG_007975.1:g.5276_5277insA
NG_008391.2:g.4941_4942insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.63-13_63-12insA MANE Select	ENSP00000349297.5:n.63-13_63-12insA
ENST00000322910.9:c.5_6insA	ENSP00000325395.5:n.5_6insA
ENST00000350303.9:c.63-13_63-12insA	ENSP00000344152.5:n.63-13_63-12insA
ENST00000356839.9:c.63-13_63-12insA	ENSP00000349297.5:n.63-13_63-12insA
ENST00000543245.6:c.132-13_132-12insA	ENSP00000438689.2:n.132-13_132-12insA
ENST00000577191.5:n.140-13_140-12insA
ENST00000577857.5:n.153-13_153-12insA
ENST00000578269.5:n.170-13_170-12insA
ENST00000578421.1:n.184_185insA
ENST00000579286.5:n.170-13_170-12insA
ENST00000579886.2:c.63-13_63-12insA	ENSP00000463246.1:n.63-13_63-12insA
ENST00000580263.5:n.153-13_153-12insA
ENST00000581562.5:n.110-13_110-12insA
ENST00000582056.5:n.153-13_153-12insA
ENST00000582356.5:n.188-13_188-12insA
ENST00000583312.5:c.63-13_63-12insA	ENSP00000467920.1:n.63-13_63-12insA
ENST00000584103.5:c.63-13_63-12insA	ENSP00000465353.1:n.63-13_63-12insA
NM_000018.3:c.63-13_63-12insA	NP_000009.1:n.63-13_63-12insA
NM_001033859.2:c.63-13_63-12insA	NP_001029031.1:n.63-13_63-12insA
NM_001270447.1:c.132-13_132-12insA	NP_001257376.1:n.132-13_132-12insA
NM_001270448.1:c.-179_-178insA	NP_001257377.1:n.-179_-178insA
XM_006721516.2:c.63-13_63-12insA	XP_006721579.2:n.63-13_63-12insA
XM_011523829.1:c.63-13_63-12insA	XP_011522131.1:n.63-13_63-12insA
XM_011523830.1:c.63-13_63-12insA	XP_011522132.1:n.63-13_63-12insA
XR_934021.1:n.170-13_170-12insA
XR_934022.1:n.170-13_170-12insA
XR_934023.1:n.170-13_170-12insA
XM_006721516.3:c.63-13_63-12insA	XP_006721579.2:n.63-13_63-12insA
XM_011523829.2:c.63-13_63-12insA	XP_011522131.1:n.63-13_63-12insA
XM_011523830.2:c.63-13_63-12insA	XP_011522132.1:n.63-13_63-12insA
XM_024450741.1:c.63-13_63-12insA	XP_024306509.1:n.63-13_63-12insA
XR_934021.2:n.122-13_122-12insA
XR_934022.2:n.122-13_122-12insA
XR_934023.2:n.122-13_122-12insA
NM_000018.4:c.63-13_63-12insA MANE Select	NP_000009.1:n.63-13_63-12insA
NM_001033859.3:c.63-13_63-12insA	NP_001029031.1:n.63-13_63-12insA
NM_001270447.2:c.132-13_132-12insA	NP_001257376.1:n.132-13_132-12insA
NM_001270448.2:c.-179_-178insA	NP_001257377.1:n.-179_-178insA