Canonical Allele Identifier: CA2695229379

Gene: THBD

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23047818_23047819delinsAGG , CM000682.2:g.23047818_23047819delinsAGG	GRCh38
NC_000020.10:g.23028455_23028456delinsAGG , CM000682.1:g.23028455_23028456delinsAGG	GRCh37
NC_000020.9:g.22976455_22976456delinsAGG	NCBI36
NG_012027.1:g.6846_6847delinsCCT , LRG_168:g.6846_6847delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377103.3:c.1686_1687delinsCCT MANE Select	ENSP00000366307.2:p.Gln564AlafsTer?
ENST00000377103.2:c.1686_1687delinsCCT	ENSP00000366307.2:p.Gln564AlafsTer?
NM_000361.2:c.1686_1687delinsCCT , LRG_168t1:c.1686_1687delinsCCT	NP_000352.1:p.Gln564AlafsTer?
NM_000361.3:c.1686_1687delinsCCT MANE Select	NP_000352.1:p.Gln564AlafsTer?