Canonical Allele Identifier: CA2580078911

Gene: TTPA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63066017_63066018delinsTACACATCTGTGATCG , CM000670.2:g.63066017_63066018delinsTACACATCTGTGATCG	GRCh38
NC_000008.10:g.63978576_63978577delinsTACACATCTGTGATCG , CM000670.1:g.63978576_63978577delinsTACACATCTGTGATCG	GRCh37
NC_000008.9:g.64141130_64141131delinsTACACATCTGTGATCG	NCBI36
NG_016123.1:g.25036_25037delinsCGATCACAGATGTGTA

Transcript Alleles

HGVS	Amino-acid Change
NM_000370.3:c.438_439delinsCGATCACAGATGTGTA MANE Select	NP_000361.1:p.Glu146AspfsTer7
ENST00000260116.5:c.438_439delinsCGATCACAGATGTGTA MANE Select	ENSP00000260116.4:p.Glu146AspfsTer7
ENST00000260116.4:c.438_439delinsCGATCACAGATGTGTA	ENSP00000260116.4:p.Glu146AspfsTer7
ENST00000521138.1:n.233-17415_233-17414delinsCGATCACAGATGTGTA
XM_006716468.2:c.205-1702_205-1701delinsCGATCACAGATGTGTA	XP_006716531.1:n.205-1702_205-1701delinsCGATCACAGATGTGTA
XM_006716468.4:c.205-1702_205-1701delinsCGATCACAGATGTGTA	XP_006716531.1:n.205-1702_205-1701delinsCGATCACAGATGTGTA