Canonical Allele Identifier: CA2600571277
Gene: PTCSC2 HGNC NCBI

Linked Data

gnomAD v3: 9-97851939-G-GCCCCCC
gnomAD v4: 9-97851939-G-GCCCCCC
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851946_97851951dup , CM000671.2:g.97851946_97851951dup GRCh38
NC_000009.11:g.100614228_100614233dup , CM000671.1:g.100614228_100614233dup GRCh37
NC_000009.10:g.99654049_99654054dup NCBI36
NG_011979.1:g.3692_3697dup

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+931_218+936dup
XR_930159.1:n.218+931_218+936dup
XR_930160.1:n.218+931_218+936dup
XR_930161.1:n.218+931_218+936dup
NR_147055.1:n.165+971_165+976dup
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