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_000006.12:g.42763438_42763441delinsATTC , CM000668.2:g.42763438_42763441delinsATTC	GRCh38
NC_000006.11:g.42731176_42731179delinsATTC , CM000668.1:g.42731176_42731179delinsATTC	GRCh37
NC_000006.10:g.42839154_42839157delinsATTC	NCBI36
NG_054763.1:g.21481_21484delinsATTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000614467.4:c.-261+16415_-261+16418delinsATTC	ENSP00000482211.1:n.-261+16415_-261+16418delinsATTC
XR_926809.1:n.919+3504_919+3507delinsATTC
XR_926810.1:n.904+3504_904+3507delinsATTC
XR_926811.1:n.1175+3504_1175+3507delinsATTC
NM_001318819.1:c.-365+16415_-365+16418delinsATTC	NP_001305748.1:n.-365+16415_-365+16418delinsATTC
NM_001318819.2:c.-365+16415_-365+16418delinsATTC	NP_001305748.1:n.-365+16415_-365+16418delinsATTC