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_000011.10:g.117832040_117832041delinsTG , CM000673.2:g.117832040_117832041delinsTG	GRCh38
NC_000011.9:g.117702755_117702756delinsTG , CM000673.1:g.117702755_117702756delinsTG	GRCh37
NC_000011.8:g.117207965_117207966delinsTG	NCBI36
NG_011543.1:g.1052_1053delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532984.1:c.272+7740_272+7741delinsCA	ENSP00000463024.1:n.272+7740_272+7741delinsCA
ENST00000614497.5:c.259+7740_259+7741delinsCA	ENSP00000482442.1:n.259+7740_259+7741delinsCA
NM_001204268.1:c.259+7740_259+7741delinsCA	NP_001191197.1:n.259+7740_259+7741delinsCA
NM_001243598.2:c.272+7740_272+7741delinsCA	NP_001230527.1:n.272+7740_272+7741delinsCA
NM_001204268.2:c.259+7740_259+7741delinsCA	NP_001191197.1:n.259+7740_259+7741delinsCA
NM_001243598.3:c.272+7740_272+7741delinsCA	NP_001230527.1:n.272+7740_272+7741delinsCA
NM_001204268.3:c.259+7740_259+7741delinsCA	NP_001191197.1:n.259+7740_259+7741delinsCA
NM_001243598.4:c.272+7740_272+7741delinsCA	NP_001230527.1:n.272+7740_272+7741delinsCA