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.

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.14029184_14029189delinsCAGGAG , CM000681.2:g.14029184_14029189delinsCAGGAG	GRCh38
NC_000019.9:g.14139996_14140001delinsCAGGAG , CM000681.1:g.14139996_14140001delinsCAGGAG	GRCh37
NC_000019.8:g.14000996_14001001delinsCAGGAG	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000431365.3:c.190+790_190+795delinsCAGGAG MANE Select	ENSP00000397415.2:n.190+790_190+795delins...
ENST00000431365.2:c.190+790_190+795delinsCAGGAG	ENSP00000397415.2:n.190+790_190+795delins...
ENST00000585987.1:c.190+790_190+795delinsCAGGAG	ENSP00000467130.1:n.190+790_190+795delins...
NM_001311197.1:c.190+790_190+795delinsCAGGAG	NP_001298126.1:n.190+790_190+795delinsCAG...
NM_080864.2:c.190+790_190+795delinsCAGGAG	NP_543140.1:n.190+790_190+795delinsCAGGAG...
NM_080864.3:c.190+790_190+795delinsCAGGAG	NP_543140.1:n.190+790_190+795delinsCAGGAG...
NM_080864.4:c.190+790_190+795delinsCAGGAG MANE Select	NP_543140.1:n.190+790_190+795delinsCAGGAG...
NM_001311197.2:c.190+790_190+795delinsCAGGAG	NP_001298126.1:n.190+790_190+795delinsCAG...