Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145602_44145607dup , CM000669.2:g.44145602_44145607dup	GRCh38
NC_000007.13:g.44185201_44185206dup , CM000669.1:g.44185201_44185206dup	GRCh37
NC_000007.12:g.44151726_44151731dup	NCBI36
NG_008847.1:g.48818_48823dup
NG_008847.2:g.57565_57570dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1142_1147dup	ENSP00000379142.4:n.1142_1147dup
ENST00000616242.5:c.264_269dup	ENSP00000482149.2:n.264_269dup
ENST00000683378.1:n.370_375dup
ENST00000336642.9:c.178_183dup	ENSP00000338009.5:p.Ser61_Ala62insCysSer
ENST00000345378.7:c.1147_1152dup	ENSP00000223366.2:p.Ser384_Ala385insCysSer
ENST00000403799.8:c.1144_1149dup MANE Select	ENSP00000384247.3:p.Ser383_Ala384insCysSer
ENST00000671824.1:c.1207_1212dup	ENSP00000500264.1:p.Ser404_Ala405insCysSer
ENST00000672743.1:n.156_161dup
ENST00000673284.1:c.1144_1149dup	ENSP00000499852.1:p.Ser383_Ala384insCysSer
ENST00000336642.8:c.196_201dup	ENSP00000338009.4:p.Ser67_Ala68insCysSer
ENST00000345378.6:c.1147_1152dup	ENSP00000223366.2:p.Ser384_Ala385insCysSer
ENST00000395796.7:c.1141_1146dup	ENSP00000379142.3:p.Ser382_Ala383insCysSer
ENST00000403799.7:c.1144_1149dup	ENSP00000384247.3:p.Ser383_Ala384insCysSer
ENST00000437084.1:c.1093_1098dup	ENSP00000402840.1:p.Ser366_Ala367insCysSer
ENST00000459642.1:n.524_529dup
ENST00000616242.4:c.1141_1146dup	ENSP00000482149.1:p.Ser382_Ala383insCysSer
NM_000162.3:c.1144_1149dup	NP_000153.1:p.Ser383_Ala384insCysSer
NM_033507.1:c.1147_1152dup	NP_277042.1:p.Ser384_Ala385insCysSer
NM_033508.1:c.1141_1146dup	NP_277043.1:p.Ser382_Ala383insCysSer
NM_000162.4:c.1144_1149dup	NP_000153.1:p.Ser383_Ala384insCysSer
NM_001354800.1:c.1144_1149dup	NP_001341729.1:p.Ser383_Ala384insCysSer
NM_001354801.1:c.133_138dup	NP_001341730.1:p.Ser46_Ala47insCysSer
NM_001354802.1:c.4_9dup	NP_001341731.1:p.Ser3_Ala4insCysSer
NM_001354803.1:c.178_183dup	NP_001341732.1:p.Ser61_Ala62insCysSer
NM_033507.2:c.1147_1152dup	NP_277042.1:p.Ser384_Ala385insCysSer
NM_033508.2:c.1141_1146dup	NP_277043.1:p.Ser382_Ala383insCysSer
XM_024446707.1:c.4_9dup	XP_024302475.1:p.Ser3_Ala4insCysSer
NM_000162.5:c.1144_1149dup MANE Select	NP_000153.1:p.Ser383_Ala384insCysSer
NM_033507.3:c.1147_1152dup	NP_277042.1:p.Ser384_Ala385insCysSer
NM_033508.3:c.1141_1146dup	NP_277043.1:p.Ser382_Ala383insCysSer
NM_001354803.2:c.178_183dup	NP_001341732.1:p.Ser61_Ala62insCysSer