Canonical Allele Identifier: CA2676323146

Gene: GABRA1

Linked Data

• gnomAD v4: 5-161890769-CAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161890772_161890774del , CM000667.2:g.161890772_161890774del	GRCh38
NC_000005.9:g.161317778_161317780del , CM000667.1:g.161317778_161317780del	GRCh37
NC_000005.8:g.161250356_161250358del	NCBI36
NG_011548.1:g.48582_48584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393943.10:c.704-126_704-124del MANE Select	ENSP00000377517.4:n.704-126_704-124del
ENST00000635880.1:c.704-126_704-124del	ENSP00000489738.1:n.704-126_704-124del
ENST00000635916.2:n.2305-126_2305-124del
ENST00000636340.1:c.*553-126_*553-124del	ENSP00000490002.1:n.*553-126_*553-124del
ENST00000636408.1:n.508-126_508-124del
ENST00000636573.1:c.704-126_704-124del	ENSP00000490320.1:n.704-126_704-124del
ENST00000637044.1:c.*478-126_*478-124del	ENSP00000490684.1:n.*478-126_*478-124del
ENST00000637827.1:c.704-126_704-124del	ENSP00000490804.1:n.704-126_704-124del
ENST00000638112.1:c.704-126_704-124del	ENSP00000489839.1:n.704-126_704-124del
ENST00000638159.1:c.749-126_749-124del	ENSP00000490360.1:n.749-126_749-124del
ENST00000023897.10:c.704-126_704-124del	ENSP00000023897.6:n.704-126_704-124del
ENST00000393943.9:c.704-126_704-124del	ENSP00000377517.4:n.704-126_704-124del
ENST00000428797.7:c.704-126_704-124del	ENSP00000393097.2:n.704-126_704-124del
ENST00000437025.6:c.704-126_704-124del	ENSP00000415441.2:n.704-126_704-124del
ENST00000519542.1:n.468-126_468-124del
ENST00000634335.1:c.704-126_704-124del	ENSP00000489434.1:n.704-126_704-124del
NM_000806.5:c.704-126_704-124del	NP_000797.2:n.704-126_704-124del
NM_001127643.1:c.704-126_704-124del	NP_001121115.1:n.704-126_704-124del
NM_001127644.1:c.704-126_704-124del	NP_001121116.1:n.704-126_704-124del
NM_001127645.1:c.704-126_704-124del	NP_001121117.1:n.704-126_704-124del
NM_001127648.1:c.704-126_704-124del	NP_001121120.1:n.704-126_704-124del
NM_001127644.2:c.704-126_704-124del MANE Select	NP_001121116.1:n.704-126_704-124del
NM_001127643.2:c.704-126_704-124del	NP_001121115.1:n.704-126_704-124del
NM_001127645.2:c.704-126_704-124del	NP_001121117.1:n.704-126_704-124del
NM_001127648.2:c.704-126_704-124del	NP_001121120.1:n.704-126_704-124del