Canonical Allele Identifier: CA614437729

Gene: SPTB

Linked Data

• dbSNP Id: rs1192116186
• gnomAD v2: 14-65234169-C-CTGT
• gnomAD v3: 14-64767451-C-CTGT
• gnomAD v4: 14-64767451-C-CTGT
• MyVariant Identifiers: chr14:g.65234169_65234170insTGT (hg19) ; chr14:g.64767451_64767452insTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64767453_64767454insTTG , CM000676.2:g.64767453_64767454insTTG	GRCh38
NC_000014.8:g.65234171_65234172insTTG , CM000676.1:g.65234171_65234172insTTG	GRCh37
NC_000014.7:g.64303924_64303925insTTG	NCBI36
NG_016202.1:g.60697_60698insACA
NG_016202.2:g.117441_117442insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389720.4:c.6220-100_6220-99insACA	ENSP00000374370.4:n.6220-100_6220-99insACA
ENST00000644917.1:c.6220-100_6220-99insACA MANE Select	ENSP00000495909.1:n.6220-100_6220-99insACA
ENST00000389720.3:c.6219+211_6219+212insACA	ENSP00000374370.3:n.6219+211_6219+212insACA
ENST00000389721.9:c.6220-100_6220-99insACA	ENSP00000374371.5:n.6220-100_6220-99insACA
ENST00000389722.7:c.6220-100_6220-99insACA	ENSP00000374372.3:n.6220-100_6220-99insACA
ENST00000542694.2:n.552-100_552-99insACA
ENST00000553938.5:c.2215-100_2215-99insACA	ENSP00000451324.1:n.2215-100_2215-99insACA
ENST00000556626.5:c.6220-100_6220-99insACA	ENSP00000451752.1:n.6220-100_6220-99insACA
NM_000347.5:c.6220-100_6220-99insACA	NP_000338.3:n.6220-100_6220-99insACA
NM_001024858.2:c.6220-100_6220-99insACA	NP_001020029.1:n.6220-100_6220-99insACA
XM_005268023.3:c.6220-100_6220-99insACA	XP_005268080.1:n.6220-100_6220-99insACA
NM_001024858.3:c.6220-100_6220-99insACA	NP_001020029.1:n.6220-100_6220-99insACA
NM_001355436.2:c.6220-100_6220-99insACA MANE Select	NP_001342365.1:n.6220-100_6220-99insACA
NM_001355437.2:c.6220-100_6220-99insACA	NP_001342366.1:n.6220-100_6220-99insACA
XM_017021612.2:c.6220-100_6220-99insACA	XP_016877101.1:n.6220-100_6220-99insACA
XM_024449699.1:c.6220-100_6220-99insACA	XP_024305467.1:n.6220-100_6220-99insACA
NM_001024858.4:c.6220-100_6220-99insACA	NP_001020029.1:n.6220-100_6220-99insACA