Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA1127168390

Gene: KRT18P13 HGNC NCBI
PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1829160482

gnomAD v3: 9-97700027-CTGG-C

gnomAD v4: 9-97700027-CTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97700029_97700031del , CM000671.2:g.97700029_97700031del	GRCh38
NC_000009.11:g.100462311_100462313del , CM000671.1:g.100462311_100462313del	GRCh37
NC_000009.10:g.99502132_99502134del	NCBI36
NG_011642.1:g.2380_2382del , LRG_471:g.2380_2382del

Transcript Alleles

HGVS	Amino-acid change
ENST00000400056.3:n.663-78_663-76del (KRT18P13)
NR_147055.1:n.1542_1544del (PTCSC2)

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