Canonical Allele Identifier: CA969688205

Gene: GABPB1

Linked Data

• dbSNP Id: rs2047877086
• gnomAD v3: 15-50329423-TAAAG-T
• gnomAD v4: 15-50329423-TAAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50329425_50329428del , CM000677.2:g.50329425_50329428del	GRCh38
NC_000015.9:g.50621622_50621625del , CM000677.1:g.50621622_50621625del	GRCh37
NC_000015.8:g.48408914_48408917del	NCBI36
NG_029475.1:g.30982_30985del
NG_029475.2:g.30982_30985del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380877.8:c.1-19629_1-19626del MANE Select	ENSP00000370259.3:n.1-19629_1-19626del
ENST00000220429.12:c.1-19629_1-19626del	ENSP00000220429.8:n.1-19629_1-19626del
ENST00000359031.8:c.-1+16945_-1+16948del	ENSP00000351923.4:n.-1+16945_-1+16948del
ENST00000380877.7:c.1-19629_1-19626del	ENSP00000370259.3:n.1-19629_1-19626del
ENST00000396464.7:c.1-19629_1-19626del	ENSP00000379728.3:n.1-19629_1-19626del
ENST00000429662.6:c.1-19629_1-19626del	ENSP00000395771.2:n.1-19629_1-19626del
ENST00000543881.5:c.-120-25294_-120-25291del	ENSP00000442500.1:n.-120-25294_-120-25291del
ENST00000558970.2:c.-255-14757_-255-14754del	ENSP00000454211.1:n.-255-14757_-255-14754del
ENST00000560825.5:c.-1+16945_-1+16948del	ENSP00000453463.1:n.-1+16945_-1+16948del
NM_002041.4:c.1-19629_1-19626del	NP_002032.2:n.1-19629_1-19626del
NM_005254.5:c.1-19629_1-19626del	NP_005245.2:n.1-19629_1-19626del
NM_016654.4:c.1-19629_1-19626del	NP_057738.1:n.1-19629_1-19626del
NM_016655.4:c.1-19629_1-19626del	NP_057739.1:n.1-19629_1-19626del
NM_181427.3:c.-1+16945_-1+16948del	NP_852092.1:n.-1+16945_-1+16948del
XM_005254273.3:c.-1+16945_-1+16948del	XP_005254330.1:n.-1+16945_-1+16948del
NM_001320910.1:c.-1+16945_-1+16948del	NP_001307839.1:n.-1+16945_-1+16948del
NM_001320915.1:c.-1+16945_-1+16948del	NP_001307844.1:n.-1+16945_-1+16948del
XM_011521426.3:c.1-19629_1-19626del	XP_011519728.1:n.1-19629_1-19626del
XM_017022053.2:c.-1+16945_-1+16948del	XP_016877542.1:n.-1+16945_-1+16948del
XM_017022054.2:c.-1+16945_-1+16948del	XP_016877543.1:n.-1+16945_-1+16948del
XM_024449883.1:c.15+11076_15+11079del	XP_024305651.1:n.15+11076_15+11079del
XM_024449884.1:c.15+11076_15+11079del	XP_024305652.1:n.15+11076_15+11079del
XM_024449885.1:c.-60-1990_-60-1987del	XP_024305653.1:n.-60-1990_-60-1987del
XM_024449886.1:c.1-19629_1-19626del	XP_024305654.1:n.1-19629_1-19626del
XM_024449887.1:c.15+11076_15+11079del	XP_024305655.1:n.15+11076_15+11079del
XM_024449888.1:c.15+11076_15+11079del	XP_024305656.1:n.15+11076_15+11079del
NM_001320910.2:c.-1+16945_-1+16948del	NP_001307839.1:n.-1+16945_-1+16948del
NM_001320915.2:c.-1+16945_-1+16948del	NP_001307844.1:n.-1+16945_-1+16948del
NM_005254.6:c.1-19629_1-19626del	NP_005245.2:n.1-19629_1-19626del
NM_016654.5:c.1-19629_1-19626del MANE Select	NP_057738.1:n.1-19629_1-19626del
NM_002041.5:c.1-19629_1-19626del	NP_002032.2:n.1-19629_1-19626del
NM_016655.5:c.1-19629_1-19626del	NP_057739.1:n.1-19629_1-19626del
NM_181427.4:c.-1+16945_-1+16948del	NP_852092.1:n.-1+16945_-1+16948del