Canonical Allele Identifier: CA1556074975

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.75359614_75359618delinsTTCTA , CM000667.2:g.75359614_75359618delinsTTCTA GRCh38
NC_000005.9:g.74655439_74655443delinsTTCTA , CM000667.1:g.74655439_74655443delinsTTCTA GRCh37
NC_000005.8:g.74691195_74691199delinsTTCTA NCBI36
NG_011449.1:g.27447_27451delinsTTCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000287936.9:c.2457+58_2457+62delinsTTCTA (HMGCR) MANE Select ENSP00000287936.4:n.2457+58_2457+62delinsTTCTA
ENST00000644912.1:c.1670-2606_1670-2602delinsTAGAA (CERT1) ENSP00000495172.1:n.1670-2606_1670-2602delinsTAGAA
ENST00000646172.1:c.1203-2606_1203-2602delinsTAGAA (CERT1) ENSP00000494969.1:n.1203-2606_1203-2602delinsTAGAA
ENST00000679456.1:n.3294+58_3294+62delinsTTCTA (HMGCR)
ENST00000680160.1:c.2412+103_2412+107delinsTTCTA (HMGCR) ENSP00000505315.1:n.2412+103_2412+107delinsTTCTA
ENST00000680940.1:c.2457+58_2457+62delinsTTCTA (HMGCR) ENSP00000505561.1:n.2457+58_2457+62delinsTTCTA
ENST00000681271.1:c.2457+58_2457+62delinsTTCTA (HMGCR) ENSP00000505805.1:n.2457+58_2457+62delinsTTCTA
ENST00000681410.1:c.2457+58_2457+62delinsTTCTA (HMGCR) ENSP00000506232.1:n.2457+58_2457+62delinsTTCTA
ENST00000681567.1:c.*3006+58_*3006+62delinsTTCTA (HMGCR) ENSP00000506708.1:n.*3006+58_*3006+62delinsTTCTA
ENST00000287936.8:c.2457+58_2457+62delinsTTCTA (HMGCR) ENSP00000287936.4:n.2457+58_2457+62delinsTTCTA
ENST00000343975.9:c.2298+58_2298+62delinsTTCTA (HMGCR) ENSP00000340816.5:n.2298+58_2298+62delinsTTCTA
ENST00000509085.5:c.287+304_287+308delinsTTCTA (HMGCR)
ENST00000511206.5:c.2457+58_2457+62delinsTTCTA (HMGCR) ENSP00000426745.1:n.2457+58_2457+62delinsTTCTA
ENST00000511986.1:c.139-371_139-367delinsTTCTA (HMGCR) ENSP00000420871.1:n.139-371_139-367delinsTTCTA
ENST00000514315.2:n.456_460delinsTTCTA (HMGCR)
NM_000859.2:c.2457+58_2457+62delinsTTCTA (HMGCR) NP_000850.1:n.2457+58_2457+62delinsTTCTA
NM_001130996.1:c.2298+58_2298+62delinsTTCTA (HMGCR) NP_001124468.1:n.2298+58_2298+62delinsTTCTA
XM_011543357.1:c.2517+58_2517+62delinsTTCTA (HMGCR) XP_011541659.1:n.2517+58_2517+62delinsTTCTA
XM_011543358.1:c.2457+58_2457+62delinsTTCTA (HMGCR) XP_011541660.1:n.2457+58_2457+62delinsTTCTA
XM_011543359.1:c.2358+58_2358+62delinsTTCTA (HMGCR) XP_011541661.1:n.2358+58_2358+62delinsTTCTA
NM_001364187.1:c.2457+58_2457+62delinsTTCTA (HMGCR) NP_001351116.1:n.2457+58_2457+62delinsTTCTA
NM_000859.3:c.2457+58_2457+62delinsTTCTA (HMGCR) MANE Select NP_000850.1:n.2457+58_2457+62delinsTTCTA
NM_001130996.2:c.2298+58_2298+62delinsTTCTA (HMGCR) NP_001124468.1:n.2298+58_2298+62delinsTTCTA