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_000005.10:g.1444387_1444431delinsAACACACATACACACTCACACACACACAGGCGAGCACATACACTT , CM000667.2:g.1444387_1444431delinsAACACACATACACACTCACACACACACAGGCGAGCACATACACTT	GRCh38
NC_000005.9:g.1444502_1444546delinsAACACACATACACACTCACACACACACAGGCGAGCACATACACTT , CM000667.1:g.1444502_1444546delinsAACACACATACACACTCACACACACACAGGCGAGCACATACACTT	GRCh37
NC_000005.8:g.1497502_1497546delinsAACACACATACACACTCACACACACACAGGCGAGCACATACACTT	NCBI36
NG_015885.1:g.5998_6042delinsAAGTGTATGTGCTCGCCTGTGTGTGTGTGAGTGTGTATGTGTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.-46+917_-46+961delinsAAGTGTATGTGCTCGCCTGTGTGTGTGTGAGTGTGTATGTGTGTT MANE Select	ENSP00000270349.9:n.-46+917_-46+961delinsAAGTGTATGTGCTCGCCTGT...
ENST00000270349.11:c.-46+917_-46+961delinsAAGTGTATGTGCTCGCCTGTGTGTGTGTGAGTGTGTATGTGTGTT	ENSP00000270349.9:n.-46+917_-46+961delinsAAGTGTATGTGCTCGCCTGT...
NM_001044.4:c.-46+917_-46+961delinsAAGTGTATGTGCTCGCCTGTGTGTGTGTGAGTGTGTATGTGTGTT	NP_001035.1:n.-46+917_-46+961delinsAAGTGTATGTGCTCGCCTGTGTGTGT...
NM_001044.5:c.-46+917_-46+961delinsAAGTGTATGTGCTCGCCTGTGTGTGTGTGAGTGTGTATGTGTGTT MANE Select	NP_001035.1:n.-46+917_-46+961delinsAAGTGTATGTGCTCGCCTGTGTGTGT...