Canonical Allele Identifier: CA1584336142

Gene: PITX1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028548_135028552delinsGCTTT , CM000667.2:g.135028548_135028552delinsGCTTT	GRCh38
NC_000005.9:g.134364238_134364242delinsGCTTT , CM000667.1:g.134364238_134364242delinsGCTTT	GRCh37
NC_000005.8:g.134392137_134392141delinsGCTTT	NCBI36
NG_012114.1:g.10723_10727delinsAAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*227_*231delinsAAAGC MANE Select	ENSP00000265340.6:n.*227_*231delinsAAAGC
ENST00000265340.11:c.*227_*231delinsAAAGC	ENSP00000265340.6:n.*227_*231delinsAAAGC
NM_002653.4:c.*227_*231delinsAAAGC	NP_002644.4:n.*227_*231delinsAAAGC
NM_002653.5:c.*227_*231delinsAAAGC MANE Select	NP_002644.4:n.*227_*231delinsAAAGC