Canonical Allele Identifier: CA713515423

Gene: GABPB1

Linked Data

• dbSNP Id: rs1343436767
• gnomAD v3: 15-50318629-A-AC
• gnomAD v4: 15-50318629-A-AC
• MyVariant Identifiers: chr15:g.50610826_50610827insC (hg19) ; chr15:g.50318629_50318630insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50318630dup , CM000677.2:g.50318630dup	GRCh38
NC_000015.9:g.50610827dup , CM000677.1:g.50610827dup	GRCh37
NC_000015.8:g.48398119dup	NCBI36
NG_029475.1:g.41779dup
NG_029475.2:g.41779dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000380877.8:c.1-8832dup MANE Select	ENSP00000370259.3:n.1-8832dup
ENST00000220429.12:c.1-8832dup	ENSP00000220429.8:n.1-8832dup
ENST00000359031.8:c.1-8832dup	ENSP00000351923.4:n.1-8832dup
ENST00000380877.7:c.1-8832dup	ENSP00000370259.3:n.1-8832dup
ENST00000396464.7:c.1-8832dup	ENSP00000379728.3:n.1-8832dup
ENST00000429662.6:c.1-8832dup	ENSP00000395771.2:n.1-8832dup
ENST00000543881.5:c.-120-14497dup	ENSP00000442500.1:n.-120-14497dup
ENST00000558335.5:c.-1+8563dup	ENSP00000453578.1:n.-1+8563dup
ENST00000558970.2:c.-255-3960dup	ENSP00000454211.1:n.-255-3960dup
ENST00000560825.5:c.1-8832dup	ENSP00000453463.1:n.1-8832dup
NM_002041.4:c.1-8832dup	NP_002032.2:n.1-8832dup
NM_005254.5:c.1-8832dup	NP_005245.2:n.1-8832dup
NM_016654.4:c.1-8832dup	NP_057738.1:n.1-8832dup
NM_016655.4:c.1-8832dup	NP_057739.1:n.1-8832dup
NM_181427.3:c.1-8832dup	NP_852092.1:n.1-8832dup
XM_005254273.3:c.1-8832dup	XP_005254330.1:n.1-8832dup
XM_005254274.3:c.-1+8563dup	XP_005254331.1:n.-1+8563dup
XM_011521427.1:c.-1+2772dup	XP_011519729.1:n.-1+2772dup
NM_001320910.1:c.1-8832dup	NP_001307839.1:n.1-8832dup
NM_001320915.1:c.1-8832dup	NP_001307844.1:n.1-8832dup
XM_005254274.4:c.-1+8563dup	XP_005254331.1:n.-1+8563dup
XM_011521426.3:c.1-8832dup	XP_011519728.1:n.1-8832dup
XM_017022053.2:c.1-8832dup	XP_016877542.1:n.1-8832dup
XM_017022054.2:c.1-8832dup	XP_016877543.1:n.1-8832dup
XM_024449883.1:c.16-8832dup	XP_024305651.1:n.16-8832dup
XM_024449884.1:c.16-8832dup	XP_024305652.1:n.16-8832dup
XM_024449885.1:c.9+8739dup	XP_024305653.1:n.9+8739dup
XM_024449886.1:c.1-8832dup	XP_024305654.1:n.1-8832dup
XM_024449887.1:c.16-8832dup	XP_024305655.1:n.16-8832dup
XM_024449888.1:c.16-8832dup	XP_024305656.1:n.16-8832dup
NM_001320910.2:c.1-8832dup	NP_001307839.1:n.1-8832dup
NM_001320915.2:c.1-8832dup	NP_001307844.1:n.1-8832dup
NM_005254.6:c.1-8832dup	NP_005245.2:n.1-8832dup
NM_016654.5:c.1-8832dup MANE Select	NP_057738.1:n.1-8832dup
NM_002041.5:c.1-8832dup	NP_002032.2:n.1-8832dup
NM_016655.5:c.1-8832dup	NP_057739.1:n.1-8832dup
NM_181427.4:c.1-8832dup	NP_852092.1:n.1-8832dup