Canonical Allele Identifier: CA1081831285

Gene: PITX1

Linked Data

• gnomAD v3: 5-135028549-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTT
• gnomAD v4: 5-135028549-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028573_135028574insTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000667.2:g.135028573_135028574insTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000005.9:g.134364263_134364264insTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000667.1:g.134364263_134364264insTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000005.8:g.134392162_134392163insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_012114.1:g.10725_10726insAAAAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*229_*230insAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000265340.6:n.*229_*230insAAAAAAAAAAAAAAAAAAAAAAAAAAA
ENST00000265340.11:c.*229_*230insAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000265340.6:n.*229_*230insAAAAAAAAAAAAAAAAAAAAAAAAAAA
NM_002653.4:c.*229_*230insAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_002644.4:n.*229_*230insAAAAAAAAAAAAAAAAAAAAAAAAAAA
NM_002653.5:c.*229_*230insAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	NP_002644.4:n.*229_*230insAAAAAAAAAAAAAAAAAAAAAAAAAAA