Canonical Allele Identifier: CA2517539070
Gene: GABRB1 HGNC NCBI

Linked Data

gnomAD v4: 4-47407030-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47407033del , CM000666.2:g.47407033del GRCh38
NC_000004.11:g.47409050del , CM000666.1:g.47409050del GRCh37
NC_000004.10:g.47103807del NCBI36
NG_051831.1:g.380756del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1080+107del MANE Select ENSP00000295454.3:n.1080+107del
ENST00000295454.7:c.1080+107del ENSP00000295454.3:n.1080+107del
NM_000812.3:c.1080+107del NP_000803.2:n.1080+107del
XM_011513678.1:c.1059+107del XP_011511980.1:n.1059+107del
XM_017007985.1:c.429+107del XP_016863474.1:n.429+107del
XM_024453976.1:c.981+107del XP_024309744.1:n.981+107del
XM_024453977.1:c.981+107del XP_024309745.1:n.981+107del
XM_024453978.1:c.981+107del XP_024309746.1:n.981+107del
NM_000812.4:c.1080+107del MANE Select NP_000803.2:n.1080+107del
Search 100 bp 5'
Search 100 bp 3'