Canonical Allele Identifier: CA1941477078
Gene: HTRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506477_122506495delinsCTCCCGCACGGCTTGCAAT , CM000672.2:g.122506477_122506495delinsCTCCCGCACGGCTTGCAAT GRCh38
NC_000010.10:g.124265993_124266011delinsCTCCCGCACGGCTTGCAAT , CM000672.1:g.124265993_124266011delinsCTCCCGCACGGCTTGCAAT GRCh37
NC_000010.9:g.124255983_124256001delinsCTCCCGCACGGCTTGCAAT NCBI36
NG_011554.1:g.49953_49971delinsCTCCCGCACGGCTTGCAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.778-214_778-196delinsCTCCCGCACGGCTTGCAAT MANE Select ENSP00000357980.3:n.778-214_778-196delinsCTCCCGCACGGCTTGCAAT
ENST00000648167.1:c.460-214_460-196delinsCTCCCGCACGGCTTGCAAT ENSP00000498033.1:n.460-214_460-196delinsCTCCCGCACGGCTTGCAAT
ENST00000368984.7:c.778-214_778-196delinsCTCCCGCACGGCTTGCAAT ENSP00000357980.3:n.778-214_778-196delinsCTCCCGCACGGCTTGCAAT
NM_002775.4:c.778-214_778-196delinsCTCCCGCACGGCTTGCAAT NP_002766.1:n.778-214_778-196delinsCTCCCGCACGGCTTGCAAT
NM_002775.5:c.778-214_778-196delinsCTCCCGCACGGCTTGCAAT MANE Select NP_002766.1:n.778-214_778-196delinsCTCCCGCACGGCTTGCAAT