Canonical Allele Identifier: CA1127208686
Gene: PTCSC2 HGNC NCBI

Linked Data

gnomAD v3: 9-97851956-CGG-C
gnomAD v4: 9-97851956-CGG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851957_97851958del , CM000671.2:g.97851957_97851958del GRCh38
NC_000009.11:g.100614239_100614240del , CM000671.1:g.100614239_100614240del GRCh37
NC_000009.10:g.99654060_99654061del NCBI36
NG_011979.1:g.3703_3704del

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+918_218+919del
XR_930159.1:n.218+918_218+919del
XR_930160.1:n.218+918_218+919del
XR_930161.1:n.218+918_218+919del
NR_147055.1:n.165+958_165+959del
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