Canonical Allele Identifier: CA2643540722
Gene: SPEN HGNC NCBI

Linked Data

gnomAD v4: 1-15930684-A-AAT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15930685_15930686insTA , CM000663.2:g.15930685_15930686insTA GRCh38
NC_000001.10:g.16257180_16257181insTA , CM000663.1:g.16257180_16257181insTA GRCh37
NC_000001.9:g.16129767_16129768insTA NCBI36
NG_050663.1:g.87822_87823insTA

Transcript Alleles

HGVS Amino-acid change
ENST00000438066.2:c.*5296_*5297insTA ENSP00000388021.2:n.*5296_*5297insTA
ENST00000704274.1:c.42_43insTA
ENST00000375759.8:c.4445_4446insTA MANE Select ENSP00000364912.3:p.Lys1482AsnfsTer15
ENST00000375759.7:c.4445_4446insTA ENSP00000364912.3:p.Lys1482AsnfsTer15
NM_015001.2:c.4445_4446insTA NP_055816.2:p.Lys1482AsnfsTer15
NM_015001.3:c.4445_4446insTA MANE Select NP_055816.2:p.Lys1482AsnfsTer15
Search 100 bp 5'
Search 100 bp 3'