Canonical Allele Identifier: CA1030838048

Gene: SPTBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.54643032dup , CM000664.2:g.54643032dup	GRCh38
NC_000002.11:g.54870169dup , CM000664.1:g.54870169dup	GRCh37
NC_000002.10:g.54723673dup	NCBI36
NG_029817.1:g.191716dup

Transcript Alleles

HGVS	Amino-acid Change
NM_003128.3:c.3908dup MANE Select	NP_003119.2:p.Tyr1303Ter
ENST00000356805.9:c.3908dup MANE Select	ENSP00000349259.4:p.Tyr1303Ter
NM_003128.2:c.3908dup	NP_003119.2:p.Tyr1303Ter
NM_178313.2:c.3869dup	NP_842565.2:p.Tyr1290Ter
NM_178313.3:c.3869dup	NP_842565.2:p.Tyr1290Ter
ENST00000333896.5:c.3869dup	ENSP00000334156.5:p.Tyr1290Ter
ENST00000356805.8:c.3908dup	ENSP00000349259.4:p.Tyr1303Ter
ENST00000615901.4:c.3908dup	ENSP00000479037.1:p.Tyr1303Ter
XM_005264517.1:c.3908dup	XP_005264574.1:p.Tyr1303Ter
XM_005264517.2:c.3908dup	XP_005264574.1:p.Tyr1303Ter
XM_005264518.1:c.3869dup	XP_005264575.1:p.Tyr1290Ter
XM_005264518.2:c.3869dup	XP_005264575.1:p.Tyr1290Ter
XM_006712087.1:c.3908dup	XP_006712150.1:p.Tyr1303Ter
XM_006712087.3:c.3908dup	XP_006712150.1:p.Tyr1303Ter
XM_017004779.1:c.3908dup	XP_016860268.1:p.Tyr1303Ter
XM_017004780.1:c.3908dup	XP_016860269.1:p.Tyr1303Ter
XM_017004781.1:c.3908dup	XP_016860270.1:p.Tyr1303Ter
XR_002959325.1:n.4254dup