Canonical Allele Identifier: CA2838515059

Gene: TBC1D31

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.123142461_123142462insG , CM000670.2:g.123142461_123142462insG	GRCh38
NC_000008.10:g.124154701_124154702insG , CM000670.1:g.124154701_124154702insG	GRCh37
NC_000008.9:g.124223882_124223883insG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287380.6:c.2835+5_2835+6insG MANE Select	ENSP00000287380.1:n.2835+5_2835+6insG
ENST00000287380.5:c.2835+5_2835+6insG	ENSP00000287380.1:n.2835+5_2835+6insG
ENST00000327098.9:c.2547+1560_2547+1561insG	ENSP00000312701.5:n.2547+1560_2547+1561insG
ENST00000518805.5:c.1497+5_1497+6insG	ENSP00000429494.1:n.1497+5_1497+6insG
ENST00000521676.5:c.2466+5_2466+6insG	ENSP00000430628.1:n.2466+5_2466+6insG
ENST00000522420.5:c.2520+5_2520+6insG	ENSP00000429334.1:n.2520+5_2520+6insG
ENST00000524307.5:c.*2277+1560_*2277+1561insG	ENSP00000440772.1:n.*2277+1560_*2277+1561insG
NM_001145088.1:c.2547+1560_2547+1561insG	NP_001138560.1:n.2547+1560_2547+1561insG
NM_145647.3:c.2835+5_2835+6insG	NP_663622.2:n.2835+5_2835+6insG
XM_005251102.1:c.2742+5_2742+6insG	XP_005251159.1:n.2742+5_2742+6insG
XM_005251103.1:c.2640+1560_2640+1561insG	XP_005251160.1:n.2640+1560_2640+1561insG
XM_005251104.1:c.2598+5_2598+6insG	XP_005251161.1:n.2598+5_2598+6insG
XM_011517378.1:c.2805+5_2805+6insG	XP_011515680.1:n.2805+5_2805+6insG
XM_011517379.1:c.2835+5_2835+6insG	XP_011515681.1:n.2835+5_2835+6insG
XR_928364.1:n.2921+5_2921+6insG
NM_001330606.1:c.2520+5_2520+6insG	NP_001317535.1:n.2520+5_2520+6insG
NM_001363148.1:c.2640+1560_2640+1561insG	NP_001350077.1:n.2640+1560_2640+1561insG
NM_001363149.1:c.2805+5_2805+6insG	NP_001350078.1:n.2805+5_2805+6insG
NM_001363150.1:c.2742+5_2742+6insG	NP_001350079.1:n.2742+5_2742+6insG
NM_001363151.1:c.2640+1560_2640+1561insG	NP_001350080.1:n.2640+1560_2640+1561insG
NM_001363152.1:c.2427+5_2427+6insG	NP_001350081.1:n.2427+5_2427+6insG
NM_001363153.1:c.2403+1560_2403+1561insG	NP_001350082.1:n.2403+1560_2403+1561insG
NM_001363154.1:c.2232+1560_2232+1561insG	NP_001350083.1:n.2232+1560_2232+1561insG
NM_001363155.1:c.2325+1560_2325+1561insG	NP_001350084.1:n.2325+1560_2325+1561insG
NM_001363156.1:c.1335+5_1335+6insG	NP_001350085.1:n.1335+5_1335+6insG
XM_011517379.2:c.2835+5_2835+6insG	XP_011515681.1:n.2835+5_2835+6insG
XM_017013984.1:c.2520+5_2520+6insG	XP_016869473.1:n.2520+5_2520+6insG
XR_001745623.1:n.2828+5_2828+6insG
XR_001745625.1:n.3135+5_3135+6insG
XR_002956653.1:n.2719+5_2719+6insG
XR_928365.2:n.2867+5_2867+6insG
NM_145647.4:c.2835+5_2835+6insG MANE Select	NP_663622.2:n.2835+5_2835+6insG
NM_001145088.2:c.2547+1560_2547+1561insG	NP_001138560.1:n.2547+1560_2547+1561insG
NM_001330606.2:c.2520+5_2520+6insG	NP_001317535.1:n.2520+5_2520+6insG
NM_001363151.2:c.2640+1560_2640+1561insG	NP_001350080.1:n.2640+1560_2640+1561insG