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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.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA565925396
Gene: GPLD1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1400391408
gnomAD v2:
6-24491351-CCT-C
gnomAD v3:
6-24491123-CCT-C
gnomAD v4:
6-24491123-CCT-C
MyVariant Identifiers:
chr6:g.24491352_24491353del (hg19)
chr6:g.24491124_24491125del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.24491124_24491125del , CM000668.2:g.24491124_24491125del
GRCh38
NC_000006.11:g.24491352_24491353del , CM000668.1:g.24491352_24491353del
GRCh37
NC_000006.10:g.24599331_24599332del
NCBI36
NG_008161.1:g.1156_1157del
NG_029888.2:g.3498_3499del
Transcript Alleles
HGVS
Amino-acid change
ENST00000474784.5:n.240-1628_240-1627del
ENST00000475417.1:n.234-1628_234-1627del
XM_011514509.1:c.45-1628_45-1627del
XP_011512811.1:n.45-1628_45-1627del
XM_017010753.2:c.45-1628_45-1627del
XP_016866242.1:n.45-1628_45-1627del
XR_002956277.1:n.267-1628_267-1627del
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