Canonical Allele Identifier: CA2504573512

Gene: PITX1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028573_135028574insTTTCTTTTTT , CM000667.2:g.135028573_135028574insTTTCTTTTTT	GRCh38
NC_000005.9:g.134364263_134364264insTTTCTTTTTT , CM000667.1:g.134364263_134364264insTTTCTTTTTT	GRCh37
NC_000005.8:g.134392162_134392163insTTTCTTTTTT	NCBI36
NG_012114.1:g.10707_10708insGAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*211_*212insGAAAAAAAAA MANE Select	ENSP00000265340.6:n.*211_*212insGAAAAAAAAA
ENST00000265340.11:c.*211_*212insGAAAAAAAAA	ENSP00000265340.6:n.*211_*212insGAAAAAAAAA
ENST00000506438.5:c.*211_*212insGAAAAAAAAA	ENSP00000427542.1:n.*211_*212insGAAAAAAAAA
NM_002653.4:c.*211_*212insGAAAAAAAAA	NP_002644.4:n.*211_*212insGAAAAAAAAA
NM_002653.5:c.*211_*212insGAAAAAAAAA MANE Select	NP_002644.4:n.*211_*212insGAAAAAAAAA