Canonical Allele Identifier: CA2612561044
Gene: PTH HGNC NCBI

Linked Data

gnomAD v4: 11-13492595-TCTA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13492598_13492600del , CM000673.2:g.13492598_13492600del GRCh38
NC_000011.9:g.13514145_13514147del , CM000673.1:g.13514145_13514147del GRCh37
NC_000011.8:g.13470721_13470723del NCBI36
NG_008962.1:g.8423_8425del

Transcript Alleles

HGVS Amino-acid change
ENST00000282091.6:c.155_157del MANE Select ENSP00000282091.1:p.Val52del
ENST00000282091.5:c.155_157del ENSP00000282091.1:p.Val52del
ENST00000529816.1:c.155_157del ENSP00000433208.1:p.Val52del
NM_000315.2:c.155_157del NP_000306.1:p.Val52del
NM_000315.3:c.155_157del NP_000306.1:p.Val52del
NM_001316352.1:c.251_253del NP_001303281.1:p.Val84del
NM_000315.4:c.155_157del MANE Select NP_000306.1:p.Val52del
NM_001316352.2:c.251_253del NP_001303281.1:p.Val84del
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