×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA823315109
Gene: GPLD1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1388367171
MyVariant Identifiers:
chr6:g.24491323_24491340del (hg19)
chr6:g.24491095_24491112del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.24491103_24491120del , CM000668.2:g.24491103_24491120del
GRCh38
NC_000006.11:g.24491331_24491348del , CM000668.1:g.24491331_24491348del
GRCh37
NC_000006.10:g.24599310_24599327del
NCBI36
NG_008161.1:g.1135_1152del
NG_029888.2:g.3511_3528del
Transcript Alleles
HGVS
Amino-acid change
ENST00000474784.5:n.240-1615_240-1598del
ENST00000475417.1:n.234-1615_234-1598del
XM_011514509.1:c.45-1615_45-1598del
XP_011512811.1:n.45-1615_45-1598del
XM_017010753.2:c.45-1615_45-1598del
XP_016866242.1:n.45-1615_45-1598del
XR_002956277.1:n.267-1615_267-1598del
Search 100 bp 5'
Search 100 bp 3'