Canonical Allele Identifier: CA1362363006

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000072_47000075delinsCCTG , CM000665.2:g.47000072_47000075delinsCCTG	GRCh38
NC_000003.11:g.47041562_47041565delinsCCTG , CM000665.1:g.47041562_47041565delinsCCTG	GRCh37
NC_000003.10:g.47016566_47016569delinsCCTG	NCBI36
NG_031914.1:g.25390_25393delinsCCTG , LRG_568:g.25390_25393delinsCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.3973_3976delinsCCTG MANE Select	ENSP00000415034.2:p.Pro1325=
ENST00000651747.1:c.3871_3874delinsCCTG	ENSP00000499216.1:p.Pro1291=
ENST00000652744.1:n.310_313delinsCCTG
ENST00000416683.5:c.1960-124_1960-121delinsCCTG
ENST00000450053.7:c.3973_3976delinsCCTG	ENSP00000415034.2:p.Pro1325=
NM_015175.2:c.3973_3976delinsCCTG , LRG_568t1:c.3973_3976delinsCCTG	NP_055990.1:p.Pro1325=
XM_005264992.2:c.3871_3874delinsCCTG	XP_005265049.1:p.Pro1291=
XM_005264993.2:c.445_448delinsCCTG	XP_005265050.1:p.Pro149=
XM_006713072.2:c.3892_3895delinsCCTG	XP_006713135.1:p.Pro1298=
XM_011533532.1:c.3952_3955delinsCCTG	XP_011531834.1:p.Pro1318=
XM_011533533.1:c.3973_3976delinsCCTG	XP_011531835.1:p.Pro1325=
XM_011533534.1:c.3604_3607delinsCCTG	XP_011531836.1:p.Pro1202=
XM_011533535.1:c.3433_3436delinsCCTG	XP_011531837.1:p.Pro1145=
XM_011533536.1:c.3319_3322delinsCCTG	XP_011531838.1:p.Pro1107=
XM_011533537.1:c.2881_2884delinsCCTG	XP_011531839.1:p.Pro961=
XR_940397.1:n.4149_4152delinsCCTG
XR_940398.1:n.4149_4152delinsCCTG
NM_001365116.1:c.3871_3874delinsCCTG	NP_001352045.1:p.Pro1291=
XM_006713072.3:c.3892_3895delinsCCTG	XP_006713135.1:p.Pro1298=
XM_011533533.2:c.3973_3976delinsCCTG	XP_011531835.1:p.Pro1325=
XM_017006010.1:c.3973_3976delinsCCTG	XP_016861499.1:p.Pro1325=
XM_017006011.1:c.3952_3955delinsCCTG	XP_016861500.1:p.Pro1318=
XM_017006012.1:c.3892_3895delinsCCTG	XP_016861501.1:p.Pro1298=
XM_017006013.1:c.3973_3976delinsCCTG	XP_016861502.1:p.Pro1325=
XM_017006014.1:c.3871_3874delinsCCTG	XP_016861503.1:p.Pro1291=
XM_017006015.1:c.3604_3607delinsCCTG	XP_016861504.1:p.Pro1202=
XM_017006016.1:c.3433_3436delinsCCTG	XP_016861505.1:p.Pro1145=
XM_017006017.1:c.445_448delinsCCTG	XP_016861506.1:p.Pro149=
XR_940397.2:n.4149_4152delinsCCTG
NM_001365116.2:c.3871_3874delinsCCTG	NP_001352045.1:p.Pro1291=
NM_015175.3:c.3973_3976delinsCCTG MANE Select	NP_055990.1:p.Pro1325=