Canonical Allele Identifier: CA2676320572

Gene: GABRA1

Linked Data

• gnomAD v4: 5-161847921-TGCCGCTCCCCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161847922_161847933del , CM000667.2:g.161847922_161847933del	GRCh38
NC_000005.9:g.161274928_161274939del , CM000667.1:g.161274928_161274939del	GRCh37
NC_000005.8:g.161207506_161207517del	NCBI36
NG_011548.1:g.5732_5743del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635916.2:n.260_271del
ENST00000638112.1:c.-247-269_-247-258del	ENSP00000489839.1:n.-247-269_-247-258del
ENST00000023897.10:c.-247-269_-247-258del	ENSP00000023897.6:n.-247-269_-247-258del
ENST00000393943.9:c.-516_-505del	ENSP00000377517.4:n.-516_-505del
ENST00000428797.7:c.-248+136_-248+147del	ENSP00000393097.2:n.-248+136_-248+147del
ENST00000635096.1:c.-248+209_-248+220del	ENSP00000489033.1:n.-248+209_-248+220del
NM_000806.5:c.-247-269_-247-258del	NP_000797.2:n.-247-269_-247-258del
NM_001127643.1:c.-248+136_-248+147del	NP_001121115.1:n.-248+136_-248+147del
XR_941158.3:n.89+2587_89+2598del
NM_001127643.2:c.-248+136_-248+147del	NP_001121115.1:n.-248+136_-248+147del