Canonical Allele Identifier: CA806636893

Gene: GABRA1

Linked Data

• dbSNP Id: rs1430964566
• gnomAD v3: 5-161850723-TCA-T
• gnomAD v4: 5-161850723-TCA-T
• MyVariant Identifiers: chr5:g.161277730_161277731del (hg19) ; chr5:g.161850724_161850725del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161850724_161850725del , CM000667.2:g.161850724_161850725del	GRCh38
NC_000005.9:g.161277730_161277731del , CM000667.1:g.161277730_161277731del	GRCh37
NC_000005.8:g.161210308_161210309del	NCBI36
NG_011548.1:g.8534_8535del

Transcript Alleles

HGVS	Amino-acid change
ENST00000393943.10:c.-15-72_-15-71del MANE Select	ENSP00000377517.4:n.-15-72_-15-71del
ENST00000635880.1:c.-16+44_-16+45del	ENSP00000489738.1:n.-16+44_-16+45del
ENST00000635916.2:n.761-72_761-71del
ENST00000636340.1:c.-15-72_-15-71del	ENSP00000490002.1:n.-15-72_-15-71del
ENST00000636573.1:c.-15-72_-15-71del	ENSP00000490320.1:n.-15-72_-15-71del
ENST00000637044.1:c.-15-72_-15-71del	ENSP00000490684.1:n.-15-72_-15-71del
ENST00000637620.1:n.61-72_61-71del
ENST00000637827.1:c.-15-72_-15-71del	ENSP00000490804.1:n.-15-72_-15-71del
ENST00000638112.1:c.-15-72_-15-71del	ENSP00000489839.1:n.-15-72_-15-71del
ENST00000638159.1:c.30+57_30+58del	ENSP00000490360.1:n.30+57_30+58del
ENST00000023897.10:c.-15-72_-15-71del	ENSP00000023897.6:n.-15-72_-15-71del
ENST00000393943.9:c.-15-72_-15-71del	ENSP00000377517.4:n.-15-72_-15-71del
ENST00000428797.7:c.-15-72_-15-71del	ENSP00000393097.2:n.-15-72_-15-71del
ENST00000437025.6:c.-15-72_-15-71del	ENSP00000415441.2:n.-15-72_-15-71del
ENST00000519621.2:c.-6-81_-6-80del	ENSP00000430435.2:n.-6-81_-6-80del
ENST00000521339.5:c.4-72_4-71del	ENSP00000430895.1:n.4-72_4-71del
ENST00000522651.6:c.48+39_48+40del	ENSP00000430507.2:n.48+39_48+40del
ENST00000634335.1:c.-87_-86del	ENSP00000489434.1:n.-87_-86del
ENST00000635096.1:c.-15-72_-15-71del	ENSP00000489033.1:n.-15-72_-15-71del
NM_000806.5:c.-15-72_-15-71del	NP_000797.2:n.-15-72_-15-71del
NM_001127643.1:c.-15-72_-15-71del	NP_001121115.1:n.-15-72_-15-71del
NM_001127644.1:c.-15-72_-15-71del	NP_001121116.1:n.-15-72_-15-71del
NM_001127645.1:c.-15-72_-15-71del	NP_001121117.1:n.-15-72_-15-71del
NM_001127648.1:c.-87_-86del	NP_001121120.1:n.-87_-86del
NM_001127644.2:c.-15-72_-15-71del MANE Select	NP_001121116.1:n.-15-72_-15-71del
NM_001127643.2:c.-15-72_-15-71del	NP_001121115.1:n.-15-72_-15-71del
NM_001127645.2:c.-15-72_-15-71del	NP_001121117.1:n.-15-72_-15-71del