Canonical Allele Identifier: CA2676320540

Gene: GABRA1

Linked Data

• gnomAD v4: 5-161847904-ACCCTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161847909_161847913del , CM000667.2:g.161847909_161847913del	GRCh38
NC_000005.9:g.161274915_161274919del , CM000667.1:g.161274915_161274919del	GRCh37
NC_000005.8:g.161207493_161207497del	NCBI36
NG_011548.1:g.5719_5723del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635916.2:n.247_251del
ENST00000638112.1:c.-247-282_-247-278del	ENSP00000489839.1:n.-247-282_-247-278del
ENST00000023897.10:c.-247-282_-247-278del	ENSP00000023897.6:n.-247-282_-247-278del
ENST00000393943.9:c.-529_-525del	ENSP00000377517.4:n.-529_-525del
ENST00000428797.7:c.-248+123_-248+127del	ENSP00000393097.2:n.-248+123_-248+127del
ENST00000635096.1:c.-248+196_-248+200del	ENSP00000489033.1:n.-248+196_-248+200del
NM_000806.5:c.-247-282_-247-278del	NP_000797.2:n.-247-282_-247-278del
NM_001127643.1:c.-248+123_-248+127del	NP_001121115.1:n.-248+123_-248+127del
XR_941158.3:n.89+2611_89+2615del
NM_001127643.2:c.-248+123_-248+127del	NP_001121115.1:n.-248+123_-248+127del