Canonical Allele Identifier: CA270427964

Gene: GABPB1

Linked Data

• dbSNP Id: rs201694696
• gnomAD v2: 15-50611075-TAC-T
• gnomAD v3: 15-50318878-TAC-T
• gnomAD v4: 15-50318878-TAC-T
• MyVariant Identifiers: chr15:g.50611076_50611077del (hg19) ; chr15:g.50318879_50318880del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50318892_50318893del , CM000677.2:g.50318892_50318893del	GRCh38
NC_000015.9:g.50611089_50611090del , CM000677.1:g.50611089_50611090del	GRCh37
NC_000015.8:g.48398381_48398382del	NCBI36
NG_029475.1:g.41529_41530del
NG_029475.2:g.41529_41530del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380877.8:c.1-9082_1-9081del MANE Select	ENSP00000370259.3:n.1-9082_1-9081del
ENST00000220429.12:c.1-9082_1-9081del	ENSP00000220429.8:n.1-9082_1-9081del
ENST00000359031.8:c.1-9082_1-9081del	ENSP00000351923.4:n.1-9082_1-9081del
ENST00000380877.7:c.1-9082_1-9081del	ENSP00000370259.3:n.1-9082_1-9081del
ENST00000396464.7:c.1-9082_1-9081del	ENSP00000379728.3:n.1-9082_1-9081del
ENST00000429662.6:c.1-9082_1-9081del	ENSP00000395771.2:n.1-9082_1-9081del
ENST00000543881.5:c.-120-14747_-120-14746del	ENSP00000442500.1:n.-120-14747_-120-14746del
ENST00000558335.5:c.-1+8313_-1+8314del	ENSP00000453578.1:n.-1+8313_-1+8314del
ENST00000558970.2:c.-255-4210_-255-4209del	ENSP00000454211.1:n.-255-4210_-255-4209del
ENST00000560825.5:c.1-9082_1-9081del	ENSP00000453463.1:n.1-9082_1-9081del
NM_002041.4:c.1-9082_1-9081del	NP_002032.2:n.1-9082_1-9081del
NM_005254.5:c.1-9082_1-9081del	NP_005245.2:n.1-9082_1-9081del
NM_016654.4:c.1-9082_1-9081del	NP_057738.1:n.1-9082_1-9081del
NM_016655.4:c.1-9082_1-9081del	NP_057739.1:n.1-9082_1-9081del
NM_181427.3:c.1-9082_1-9081del	NP_852092.1:n.1-9082_1-9081del
XM_005254273.3:c.1-9082_1-9081del	XP_005254330.1:n.1-9082_1-9081del
XM_005254274.3:c.-1+8313_-1+8314del	XP_005254331.1:n.-1+8313_-1+8314del
XM_011521427.1:c.-1+2522_-1+2523del	XP_011519729.1:n.-1+2522_-1+2523del
NM_001320910.1:c.1-9082_1-9081del	NP_001307839.1:n.1-9082_1-9081del
NM_001320915.1:c.1-9082_1-9081del	NP_001307844.1:n.1-9082_1-9081del
XM_005254274.4:c.-1+8313_-1+8314del	XP_005254331.1:n.-1+8313_-1+8314del
XM_011521426.3:c.1-9082_1-9081del	XP_011519728.1:n.1-9082_1-9081del
XM_017022053.2:c.1-9082_1-9081del	XP_016877542.1:n.1-9082_1-9081del
XM_017022054.2:c.1-9082_1-9081del	XP_016877543.1:n.1-9082_1-9081del
XM_024449883.1:c.16-9082_16-9081del	XP_024305651.1:n.16-9082_16-9081del
XM_024449884.1:c.16-9082_16-9081del	XP_024305652.1:n.16-9082_16-9081del
XM_024449885.1:c.9+8489_9+8490del	XP_024305653.1:n.9+8489_9+8490del
XM_024449886.1:c.1-9082_1-9081del	XP_024305654.1:n.1-9082_1-9081del
XM_024449887.1:c.16-9082_16-9081del	XP_024305655.1:n.16-9082_16-9081del
XM_024449888.1:c.16-9082_16-9081del	XP_024305656.1:n.16-9082_16-9081del
NM_001320910.2:c.1-9082_1-9081del	NP_001307839.1:n.1-9082_1-9081del
NM_001320915.2:c.1-9082_1-9081del	NP_001307844.1:n.1-9082_1-9081del
NM_005254.6:c.1-9082_1-9081del	NP_005245.2:n.1-9082_1-9081del
NM_016654.5:c.1-9082_1-9081del MANE Select	NP_057738.1:n.1-9082_1-9081del
NM_002041.5:c.1-9082_1-9081del	NP_002032.2:n.1-9082_1-9081del
NM_016655.5:c.1-9082_1-9081del	NP_057739.1:n.1-9082_1-9081del
NM_181427.4:c.1-9082_1-9081del	NP_852092.1:n.1-9082_1-9081del