Canonical Allele Identifier: CA2675353640

Gene: PITX1

Linked Data

• gnomAD v4: 5-135028723-C-CCGCGCCCTTCCCCGCTCCGGCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028730_135028731insTTCCCCGCTCCGGCCGCGCGCCC , CM000667.2:g.135028730_135028731insTTCCCCGCTCCGGCCGCGCGCCC	GRCh38
NC_000005.9:g.134364420_134364421insTTCCCCGCTCCGGCCGCGCGCCC , CM000667.1:g.134364420_134364421insTTCCCCGCTCCGGCCGCGCGCCC	GRCh37
NC_000005.8:g.134392319_134392320insTTCCCCGCTCCGGCCGCGCGCCC	NCBI36
NG_012114.1:g.10551_10552insCGGCCGGAGCGGGGAAGGGCGCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000265340.12:c.*55_*56insCGGCCGGAGCGGGGAAGGGCGCG MANE Select	ENSP00000265340.6:n.*55_*56insCGGCCGGAGCGGGGAAGGGCGCG
ENST00000265340.11:c.*55_*56insCGGCCGGAGCGGGGAAGGGCGCG	ENSP00000265340.6:n.*55_*56insCGGCCGGAGCGGGGAAGGGCGCG
ENST00000506438.5:c.*55_*56insCGGCCGGAGCGGGGAAGGGCGCG	ENSP00000427542.1:n.*55_*56insCGGCCGGAGCGGGGAAGGGCGCG
NM_002653.4:c.*55_*56insCGGCCGGAGCGGGGAAGGGCGCG	NP_002644.4:n.*55_*56insCGGCCGGAGCGGGGAAGGGCGCG
NM_002653.5:c.*55_*56insCGGCCGGAGCGGGGAAGGGCGCG MANE Select	NP_002644.4:n.*55_*56insCGGCCGGAGCGGGGAAGGGCGCG