Canonical Allele Identifier: CA713515396

Gene: GABPB1

Linked Data

• dbSNP Id: rs1239726558
• gnomAD v3: 15-50318540-AAAG-A
• gnomAD v4: 15-50318540-AAAG-A
• MyVariant Identifiers: chr15:g.50610738_50610740del (hg19) ; chr15:g.50318541_50318543del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50318543_50318545del , CM000677.2:g.50318543_50318545del	GRCh38
NC_000015.9:g.50610740_50610742del , CM000677.1:g.50610740_50610742del	GRCh37
NC_000015.8:g.48398032_48398034del	NCBI36
NG_029475.1:g.41866_41868del
NG_029475.2:g.41866_41868del

Transcript Alleles

HGVS	Amino-acid change
ENST00000380877.8:c.1-8745_1-8743del MANE Select	ENSP00000370259.3:n.1-8745_1-8743del
ENST00000220429.12:c.1-8745_1-8743del	ENSP00000220429.8:n.1-8745_1-8743del
ENST00000359031.8:c.1-8745_1-8743del	ENSP00000351923.4:n.1-8745_1-8743del
ENST00000380877.7:c.1-8745_1-8743del	ENSP00000370259.3:n.1-8745_1-8743del
ENST00000396464.7:c.1-8745_1-8743del	ENSP00000379728.3:n.1-8745_1-8743del
ENST00000429662.6:c.1-8745_1-8743del	ENSP00000395771.2:n.1-8745_1-8743del
ENST00000543881.5:c.-120-14410_-120-14408del	ENSP00000442500.1:n.-120-14410_-120-14408...
ENST00000558335.5:c.-1+8650_-1+8652del	ENSP00000453578.1:n.-1+8650_-1+8652del
ENST00000558970.2:c.-255-3873_-255-3871del	ENSP00000454211.1:n.-255-3873_-255-3871de...
ENST00000560825.5:c.1-8745_1-8743del	ENSP00000453463.1:n.1-8745_1-8743del
NM_002041.4:c.1-8745_1-8743del	NP_002032.2:n.1-8745_1-8743del
NM_005254.5:c.1-8745_1-8743del	NP_005245.2:n.1-8745_1-8743del
NM_016654.4:c.1-8745_1-8743del	NP_057738.1:n.1-8745_1-8743del
NM_016655.4:c.1-8745_1-8743del	NP_057739.1:n.1-8745_1-8743del
NM_181427.3:c.1-8745_1-8743del	NP_852092.1:n.1-8745_1-8743del
XM_005254273.3:c.1-8745_1-8743del	XP_005254330.1:n.1-8745_1-8743del
XM_005254274.3:c.-1+8650_-1+8652del	XP_005254331.1:n.-1+8650_-1+8652del
XM_011521427.1:c.-1+2859_-1+2861del	XP_011519729.1:n.-1+2859_-1+2861del
NM_001320910.1:c.1-8745_1-8743del	NP_001307839.1:n.1-8745_1-8743del
NM_001320915.1:c.1-8745_1-8743del	NP_001307844.1:n.1-8745_1-8743del
XM_005254274.4:c.-1+8650_-1+8652del	XP_005254331.1:n.-1+8650_-1+8652del
XM_011521426.3:c.1-8745_1-8743del	XP_011519728.1:n.1-8745_1-8743del
XM_017022053.2:c.1-8745_1-8743del	XP_016877542.1:n.1-8745_1-8743del
XM_017022054.2:c.1-8745_1-8743del	XP_016877543.1:n.1-8745_1-8743del
XM_024449883.1:c.16-8745_16-8743del	XP_024305651.1:n.16-8745_16-8743del
XM_024449884.1:c.16-8745_16-8743del	XP_024305652.1:n.16-8745_16-8743del
XM_024449885.1:c.10-8745_10-8743del	XP_024305653.1:n.10-8745_10-8743del
XM_024449886.1:c.1-8745_1-8743del	XP_024305654.1:n.1-8745_1-8743del
XM_024449887.1:c.16-8745_16-8743del	XP_024305655.1:n.16-8745_16-8743del
XM_024449888.1:c.16-8745_16-8743del	XP_024305656.1:n.16-8745_16-8743del
NM_001320910.2:c.1-8745_1-8743del	NP_001307839.1:n.1-8745_1-8743del
NM_001320915.2:c.1-8745_1-8743del	NP_001307844.1:n.1-8745_1-8743del
NM_005254.6:c.1-8745_1-8743del	NP_005245.2:n.1-8745_1-8743del
NM_016654.5:c.1-8745_1-8743del MANE Select	NP_057738.1:n.1-8745_1-8743del
NM_002041.5:c.1-8745_1-8743del	NP_002032.2:n.1-8745_1-8743del
NM_016655.5:c.1-8745_1-8743del	NP_057739.1:n.1-8745_1-8743del
NM_181427.4:c.1-8745_1-8743del	NP_852092.1:n.1-8745_1-8743del