Canonical Allele Identifier: CA2625262485

Gene: SPTB

Linked Data

• gnomAD v4: 14-64767455-CACTTGTTCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64767456_64767465del , CM000676.2:g.64767456_64767465del	GRCh38
NC_000014.8:g.65234174_65234183del , CM000676.1:g.65234174_65234183del	GRCh37
NC_000014.7:g.64303927_64303936del	NCBI36
NG_016202.1:g.60684_60693del
NG_016202.2:g.117428_117437del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389720.4:c.6220-113_6220-104del	ENSP00000374370.4:n.6220-113_6220-104del
ENST00000644917.1:c.6220-113_6220-104del MANE Select	ENSP00000495909.1:n.6220-113_6220-104del
ENST00000389720.3:c.6219+198_6219+207del	ENSP00000374370.3:n.6219+198_6219+207del
ENST00000389721.9:c.6220-113_6220-104del	ENSP00000374371.5:n.6220-113_6220-104del
ENST00000389722.7:c.6220-113_6220-104del	ENSP00000374372.3:n.6220-113_6220-104del
ENST00000542694.2:n.552-113_552-104del
ENST00000553938.5:c.2215-113_2215-104del	ENSP00000451324.1:n.2215-113_2215-104del
ENST00000556626.5:c.6220-113_6220-104del	ENSP00000451752.1:n.6220-113_6220-104del
NM_000347.5:c.6220-113_6220-104del	NP_000338.3:n.6220-113_6220-104del
NM_001024858.2:c.6220-113_6220-104del	NP_001020029.1:n.6220-113_6220-104del
XM_005268023.3:c.6220-113_6220-104del	XP_005268080.1:n.6220-113_6220-104del
NM_001024858.3:c.6220-113_6220-104del	NP_001020029.1:n.6220-113_6220-104del
NM_001355436.2:c.6220-113_6220-104del MANE Select	NP_001342365.1:n.6220-113_6220-104del
NM_001355437.2:c.6220-113_6220-104del	NP_001342366.1:n.6220-113_6220-104del
XM_017021612.2:c.6220-113_6220-104del	XP_016877101.1:n.6220-113_6220-104del
XM_024449699.1:c.6220-113_6220-104del	XP_024305467.1:n.6220-113_6220-104del
NM_001024858.4:c.6220-113_6220-104del	NP_001020029.1:n.6220-113_6220-104del