Canonical Allele Identifier: CA1127207872

Gene: PTCSC2

Linked Data

• gnomAD v3: 9-97851764-GGCAGCTGCCCAACGCTTGGCCGGGCTTAGCCTGCCCTCAGCTCACCGCCACGAAGAACGCGACTAAAACCCTGGAAGGCATGCCACCCGTTACTGGCCAGAACTCTCGTCTTGGGATCTCCCACACTCACCTGGCA-G
• gnomAD v4: 9-97851764-GGCAGCTGCCCAACGCTTGGCCGGGCTTAGCCTGCCCTCAGCTCACCGCCACGAAGAACGCGACTAAAACCCTGGAAGGCATGCCACCCGTTACTGGCCAGAACTCTCGTCTTGGGATCTCCCACACTCACCTGGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851765_97851900del , CM000671.2:g.97851765_97851900del	GRCh38
NC_000009.11:g.100614047_100614182del , CM000671.1:g.100614047_100614182del	GRCh37
NC_000009.10:g.99653868_99654003del	NCBI36
NG_011979.1:g.3511_3646del

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+976_218+1111del
XR_930159.1:n.218+976_218+1111del
XR_930160.1:n.218+976_218+1111del
XR_930161.1:n.218+976_218+1111del
NR_147055.1:n.165+1016_165+1151del