Canonical Allele Identifier: CA1979774150

Gene: SPTBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66693951_66693952delinsCG , CM000673.2:g.66693951_66693952delinsCG	GRCh38
NC_000011.9:g.66461422_66461423delinsCG , CM000673.1:g.66461422_66461423delinsCG	GRCh37
NC_000011.8:g.66217998_66217999delinsCG	NCBI36
NG_016150.1:g.32448_32449delinsCG
NG_016150.2:g.40410_40411delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309996.7:c.4504-91_4504-90delinsCG	ENSP00000311489.2:n.4504-91_4504-90delinsCG
ENST00000611817.5:c.4504-91_4504-90delinsCG	ENSP00000480692.2:n.4504-91_4504-90delinsCG
ENST00000617502.5:c.4525-91_4525-90delinsCG	ENSP00000482000.2:n.4525-91_4525-90delinsCG
ENST00000647510.2:c.4504-91_4504-90delinsCG	ENSP00000508362.1:n.4504-91_4504-90delinsCG
ENST00000533211.6:c.4504-91_4504-90delinsCG MANE Select	ENSP00000432568.1:n.4504-91_4504-90delinsCG
ENST00000647510.1:n.5031-91_5031-90delinsCG
ENST00000309996.6:c.4504-91_4504-90delinsCG	ENSP00000311489.2:n.4504-91_4504-90delinsCG
ENST00000529997.5:c.4504-91_4504-90delinsCG	ENSP00000433593.1:n.4504-91_4504-90delinsCG
ENST00000533211.5:c.4504-91_4504-90delinsCG	ENSP00000432568.1:n.4504-91_4504-90delinsCG
ENST00000611817.4:c.1855-5291_1855-5290delinsCG	ENSP00000480692.1:n.1855-5291_1855-5290delinsCG
ENST00000617502.4:c.1846-4596_1846-4595delinsCG	ENSP00000482000.1:n.1846-4596_1846-4595delinsCG
NM_006946.2:c.4504-91_4504-90delinsCG	NP_008877.1:n.4504-91_4504-90delinsCG
XM_005274192.3:c.4504-91_4504-90delinsCG	XP_005274249.1:n.4504-91_4504-90delinsCG
XM_005274193.3:c.4504-91_4504-90delinsCG	XP_005274250.1:n.4504-91_4504-90delinsCG
XM_006718669.2:c.4525-91_4525-90delinsCG	XP_006718732.1:n.4525-91_4525-90delinsCG
XM_006718671.2:c.4504-91_4504-90delinsCG	XP_006718734.1:n.4504-91_4504-90delinsCG
NM_006946.3:c.4504-91_4504-90delinsCG	NP_008877.1:n.4504-91_4504-90delinsCG
XM_005274192.4:c.4504-91_4504-90delinsCG	XP_005274249.1:n.4504-91_4504-90delinsCG
XM_006718669.3:c.4525-91_4525-90delinsCG	XP_006718732.1:n.4525-91_4525-90delinsCG
XM_006718671.4:c.4504-91_4504-90delinsCG	XP_006718734.1:n.4504-91_4504-90delinsCG
XM_017018174.1:c.4504-91_4504-90delinsCG	XP_016873663.1:n.4504-91_4504-90delinsCG
XM_017018175.2:c.4504-91_4504-90delinsCG	XP_016873664.1:n.4504-91_4504-90delinsCG
XM_017018176.1:c.4504-91_4504-90delinsCG	XP_016873665.1:n.4504-91_4504-90delinsCG
XM_017018177.2:c.4504-91_4504-90delinsCG	XP_016873666.1:n.4504-91_4504-90delinsCG
XM_017018178.1:c.4504-91_4504-90delinsCG	XP_016873667.1:n.4504-91_4504-90delinsCG
NM_006946.4:c.4504-91_4504-90delinsCG MANE Select	NP_008877.2:n.4504-91_4504-90delinsCG