Canonical Allele Identifier: CA564165288

Gene: GABRA1

Linked Data

• gnomAD v2: 5-161275149-G-GTCTT
• MyVariant Identifiers: chr5:g.161275149_161275150insTCTT (hg19) ; chr5:g.161848143_161848144insTCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.161848143_161848144insTCTT , CM000667.2:g.161848143_161848144insTCTT	GRCh38
NC_000005.9:g.161275149_161275150insTCTT , CM000667.1:g.161275149_161275150insTCTT	GRCh37
NC_000005.8:g.161207727_161207728insTCTT	NCBI36
NG_011548.1:g.5953_5954insTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393943.10:c.-295_-294insTCTT MANE Select	ENSP00000377517.4:n.-295_-294insTCTT
ENST00000635916.2:n.481_482insTCTT
ENST00000638112.1:c.-247-48_-247-47insTCTT	ENSP00000489839.1:n.-247-48_-247-47insTCTT
ENST00000023897.10:c.-247-48_-247-47insTCTT	ENSP00000023897.6:n.-247-48_-247-47insTCTT
ENST00000393943.9:c.-295_-294insTCTT	ENSP00000377517.4:n.-295_-294insTCTT
ENST00000428797.7:c.-247-48_-247-47insTCTT	ENSP00000393097.2:n.-247-48_-247-47insTCTT
ENST00000635096.1:c.-247-48_-247-47insTCTT	ENSP00000489033.1:n.-247-48_-247-47insTCTT
NM_000806.5:c.-247-48_-247-47insTCTT	NP_000797.2:n.-247-48_-247-47insTCTT
NM_001127643.1:c.-247-48_-247-47insTCTT	NP_001121115.1:n.-247-48_-247-47insTCTT
NM_001127644.1:c.-295_-294insTCTT	NP_001121116.1:n.-295_-294insTCTT
XR_941158.3:n.89+2376_89+2377insAAGA
NM_001127644.2:c.-295_-294insTCTT MANE Select	NP_001121116.1:n.-295_-294insTCTT
NM_001127643.2:c.-247-48_-247-47insTCTT	NP_001121115.1:n.-247-48_-247-47insTCTT