Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145622_44145623insT , CM000669.2:g.44145622_44145623insT	GRCh38
NC_000007.13:g.44185221_44185222insT , CM000669.1:g.44185221_44185222insT	GRCh37
NC_000007.12:g.44151746_44151747insT	NCBI36
NG_008847.1:g.48801_48802insA
NG_008847.2:g.57548_57549insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1125_1126insA	ENSP00000379142.4:n.1125_1126insA
ENST00000616242.5:c.247_248insA	ENSP00000482149.2:n.247_248insA
ENST00000683378.1:n.353_354insA
ENST00000336642.9:c.161_162insA	ENSP00000338009.5:p.Arg55AlafsTer?
ENST00000345378.7:c.1130_1131insA	ENSP00000223366.2:p.Arg378AlafsTer?
ENST00000403799.8:c.1127_1128insA MANE Select	ENSP00000384247.3:p.Arg377AlafsTer?
ENST00000671824.1:c.1190_1191insA	ENSP00000500264.1:p.Arg398AlafsTer?
ENST00000672743.1:n.139_140insA
ENST00000673284.1:c.1127_1128insA	ENSP00000499852.1:p.Arg377AlafsTer?
ENST00000336642.8:c.179_180insA	ENSP00000338009.4:p.Arg61AlafsTer?
ENST00000345378.6:c.1130_1131insA	ENSP00000223366.2:p.Arg378AlafsTer?
ENST00000395796.7:c.1124_1125insA	ENSP00000379142.3:p.Arg376AlafsTer?
ENST00000403799.7:c.1127_1128insA	ENSP00000384247.3:p.Arg377AlafsTer?
ENST00000437084.1:c.1076_1077insA	ENSP00000402840.1:p.Arg360AlafsTer?
ENST00000459642.1:n.507_508insA
ENST00000616242.4:c.1124_1125insA	ENSP00000482149.1:p.Arg376AlafsTer?
NM_000162.3:c.1127_1128insA	NP_000153.1:p.Arg377AlafsTer?
NM_033507.1:c.1130_1131insA	NP_277042.1:p.Arg378AlafsTer?
NM_033508.1:c.1124_1125insA	NP_277043.1:p.Arg376AlafsTer?
NM_000162.4:c.1127_1128insA	NP_000153.1:p.Arg377AlafsTer?
NM_001354800.1:c.1127_1128insA	NP_001341729.1:p.Arg377AlafsTer?
NM_001354801.1:c.116_117insA	NP_001341730.1:p.Arg40AlafsTer?
NM_001354802.1:c.-14_-13insA	NP_001341731.1:n.-14_-13insA
NM_001354803.1:c.161_162insA	NP_001341732.1:p.Arg55AlafsTer?
NM_033507.2:c.1130_1131insA	NP_277042.1:p.Arg378AlafsTer?
NM_033508.2:c.1124_1125insA	NP_277043.1:p.Arg376AlafsTer?
XM_024446707.1:c.-14_-13insA	XP_024302475.1:n.-14_-13insA
NM_000162.5:c.1127_1128insA MANE Select	NP_000153.1:p.Arg377AlafsTer?
NM_033507.3:c.1130_1131insA	NP_277042.1:p.Arg378AlafsTer?
NM_033508.3:c.1124_1125insA	NP_277043.1:p.Arg376AlafsTer?
NM_001354803.2:c.161_162insA	NP_001341732.1:p.Arg55AlafsTer?