×
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:
CA1616492317
Gene: GPLD1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1764543947
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.24491048_24491053del , CM000668.2:g.24491048_24491053del
GRCh38
NC_000006.11:g.24491276_24491281del , CM000668.1:g.24491276_24491281del
GRCh37
NC_000006.10:g.24599255_24599260del
NCBI36
NG_008161.1:g.1080_1085del
NG_029888.2:g.3574_3579del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000474784.5:n.240-1552_240-1547del
ENST00000475417.1:n.234-1552_234-1547del
XM_011514509.1:c.45-1552_45-1547del
XP_011512811.1:n.45-1552_45-1547del
XM_017010753.2:c.45-1552_45-1547del
XP_016866242.1:n.45-1552_45-1547del
XR_002956277.1:n.267-1552_267-1547del
Search 100 bp 5'
Search 100 bp 3'