Canonical Allele Identifier: CA1455320222
Gene: GABRB1 HGNC NCBI

Linked Data

dbSNP Id: rs1728572777

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406497_47406498insACATTCTATTTTATGATTCAT , CM000666.2:g.47406497_47406498insACATTCTATTTTATGATTCAT GRCh38
NC_000004.11:g.47408514_47408515insACATTCTATTTTATGATTCAT , CM000666.1:g.47408514_47408515insACATTCTATTTTATGATTCAT GRCh37
NC_000004.10:g.47103271_47103272insACATTCTATTTTATGATTCAT NCBI36
NG_051831.1:g.380220_380221insACATTCTATTTTATGATTCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.836-185_836-184insACATTCTATTTTATGATTCAT MANE Select ENSP00000295454.3:n.836-185_836-184insACATTCTATTTTATGATTCAT
ENST00000295454.7:c.836-185_836-184insACATTCTATTTTATGATTCAT ENSP00000295454.3:n.836-185_836-184insACATTCTATTTTATGATTCAT
NM_000812.3:c.836-185_836-184insACATTCTATTTTATGATTCAT NP_000803.2:n.836-185_836-184insACATTCTATTTTATGATTCAT
XM_011513678.1:c.815-185_815-184insACATTCTATTTTATGATTCAT XP_011511980.1:n.815-185_815-184insACATTCTATTTTATGATTCAT
XM_017007985.1:c.185-185_185-184insACATTCTATTTTATGATTCAT XP_016863474.1:n.185-185_185-184insACATTCTATTTTATGATTCAT
XM_024453976.1:c.737-185_737-184insACATTCTATTTTATGATTCAT XP_024309744.1:n.737-185_737-184insACATTCTATTTTATGATTCAT
XM_024453977.1:c.737-185_737-184insACATTCTATTTTATGATTCAT XP_024309745.1:n.737-185_737-184insACATTCTATTTTATGATTCAT
XM_024453978.1:c.737-185_737-184insACATTCTATTTTATGATTCAT XP_024309746.1:n.737-185_737-184insACATTCTATTTTATGATTCAT
NM_000812.4:c.836-185_836-184insACATTCTATTTTATGATTCAT MANE Select NP_000803.2:n.836-185_836-184insACATTCTATTTTATGATTCAT