Canonical Allele Identifier: CA806634501
Gene: GABRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1429267793
MyVariant Identifiers: chr5:g.161275103_161275104del (hg19) chr5:g.161848097_161848098del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.161848102_161848103del , CM000667.2:g.161848102_161848103del GRCh38
NC_000005.9:g.161275108_161275109del , CM000667.1:g.161275108_161275109del GRCh37
NC_000005.8:g.161207686_161207687del NCBI36
NG_011548.1:g.5912_5913del

Transcript Alleles

HGVS Amino-acid change
ENST00000635916.2:n.440_441del
ENST00000638112.1:c.-247-89_-247-88del ENSP00000489839.1:n.-247-89_-247-88del
ENST00000023897.10:c.-247-89_-247-88del ENSP00000023897.6:n.-247-89_-247-88del
ENST00000393943.9:c.-336_-335del ENSP00000377517.4:n.-336_-335del
ENST00000428797.7:c.-247-89_-247-88del ENSP00000393097.2:n.-247-89_-247-88del
ENST00000635096.1:c.-247-89_-247-88del ENSP00000489033.1:n.-247-89_-247-88del
NM_000806.5:c.-247-89_-247-88del NP_000797.2:n.-247-89_-247-88del
NM_001127643.1:c.-247-89_-247-88del NP_001121115.1:n.-247-89_-247-88del
NM_001127644.1:c.-336_-335del NP_001121116.1:n.-336_-335del
XR_941158.3:n.89+2422_89+2423del
NM_001127643.2:c.-247-89_-247-88del NP_001121115.1:n.-247-89_-247-88del
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