Allele Registry

HGVS	Genome Assembly
NC_000007.14:g.44153386_44153387insCATCTCCT , CM000669.2:g.44153386_44153387insCATCTCCT	GRCh38
NC_000007.13:g.44192985_44192986insCATCTCCT , CM000669.1:g.44192985_44192986insCATCTCCT	GRCh37
NC_000007.12:g.44159510_44159511insCATCTCCT	NCBI36
NG_008847.1:g.41037_41038insAGGAGATG
NG_008847.2:g.49784_49785insAGGAGATG

HGVS	Amino-acid Change
ENST00000395796.8:c.120_121insAGGAGATG	ENSP00000379142.4:n.120_121insAGGAGATG
ENST00000616242.5:c.122_123insAGGAGATG	ENSP00000482149.2:p.Met41IlefsTer8
ENST00000682635.1:n.608_609insAGGAGATG
ENST00000345378.7:c.125_126insAGGAGATG	ENSP00000223366.2:p.Met42IlefsTer8
ENST00000403799.8:c.122_123insAGGAGATG MANE Select	ENSP00000384247.3:p.Met41IlefsTer8
ENST00000671824.1:c.122_123insAGGAGATG	ENSP00000500264.1:p.Met41IlefsTer8
ENST00000673284.1:c.122_123insAGGAGATG	ENSP00000499852.1:p.Met41IlefsTer8
ENST00000345378.6:c.125_126insAGGAGATG	ENSP00000223366.2:p.Met42IlefsTer8
ENST00000395796.7:c.119_120insAGGAGATG	ENSP00000379142.3:p.Met40IlefsTer8
ENST00000403799.7:c.122_123insAGGAGATG	ENSP00000384247.3:p.Met41IlefsTer8
ENST00000437084.1:c.122_123insAGGAGATG	ENSP00000402840.1:p.Met41IlefsTer8
ENST00000616242.4:c.119_120insAGGAGATG	ENSP00000482149.1:p.Met40IlefsTer8
NM_000162.3:c.122_123insAGGAGATG	NP_000153.1:p.Met41IlefsTer8
NM_033507.1:c.125_126insAGGAGATG	NP_277042.1:p.Met42IlefsTer8
NM_033508.1:c.119_120insAGGAGATG	NP_277043.1:p.Met40IlefsTer8
NM_000162.4:c.122_123insAGGAGATG	NP_000153.1:p.Met41IlefsTer8
NM_001354800.1:c.122_123insAGGAGATG	NP_001341729.1:p.Met41IlefsTer8
NM_033507.2:c.125_126insAGGAGATG	NP_277042.1:p.Met42IlefsTer8
NM_033508.2:c.119_120insAGGAGATG	NP_277043.1:p.Met40IlefsTer8
NM_000162.5:c.122_123insAGGAGATG MANE Select	NP_000153.1:p.Met41IlefsTer8
NM_033507.3:c.125_126insAGGAGATG	NP_277042.1:p.Met42IlefsTer8
NM_033508.3:c.119_120insAGGAGATG	NP_277043.1:p.Met40IlefsTer8