Canonical Allele Identifier: CA2787135253

Gene: MTPAP

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.30313441del , CM000672.2:g.30313441del	GRCh38
NC_000010.10:g.30602370del , CM000672.1:g.30602370del	GRCh37
NC_000010.9:g.30642376del	NCBI36
NG_028096.1:g.40898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263063.9:c.*168del MANE Select	ENSP00000263063.3:n.*168del
ENST00000263063.8:c.*168del	ENSP00000263063.3:n.*168del
ENST00000488290.5:n.3672del
NM_018109.3:c.*168del	NP_060579.3:n.*168del
NM_018109.4:c.*168del MANE Select	NP_060579.3:n.*168del