Canonical Allele Identifier: CA1584336137

Gene: PITX1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028548_135028550delinsGCT , CM000667.2:g.135028548_135028550delinsGCT	GRCh38
NC_000005.9:g.134364238_134364240delinsGCT , CM000667.1:g.134364238_134364240delinsGCT	GRCh37
NC_000005.8:g.134392137_134392139delinsGCT	NCBI36
NG_012114.1:g.10725_10727delinsAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*229_*231delinsAGC MANE Select	ENSP00000265340.6:n.*229_*231delinsAGC
ENST00000265340.11:c.*229_*231delinsAGC	ENSP00000265340.6:n.*229_*231delinsAGC
NM_002653.4:c.*229_*231delinsAGC	NP_002644.4:n.*229_*231delinsAGC
NM_002653.5:c.*229_*231delinsAGC MANE Select	NP_002644.4:n.*229_*231delinsAGC