Canonical Allele Identifier: CA1065198973

Gene: FAM13A

Linked Data

• gnomAD v3: 4-88995970-T-TCTCG
• gnomAD v4: 4-88995970-T-TCTCG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88995970_88995971insCTCG , CM000666.2:g.88995970_88995971insCTCG	GRCh38
NC_000004.11:g.89917121_89917122insCTCG , CM000666.1:g.89917121_89917122insCTCG	GRCh37
NC_000004.10:g.90136144_90136145insCTCG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264344.10:c.428-4821_428-4820insCGAG MANE Select	ENSP00000264344.5:n.428-4821_428-4820insCGAG
ENST00000264344.9:c.428-4821_428-4820insCGAG	ENSP00000264344.5:n.428-4821_428-4820insCGAG
ENST00000502459.5:n.886-4821_886-4820insCGAG
ENST00000509094.5:c.428-4821_428-4820insCGAG	ENSP00000426517.1:n.428-4821_428-4820insCGAG
ENST00000511976.5:c.-23+24489_-23+24490insCGAG	ENSP00000421914.1:n.-23+24489_-23+24490insCGAG
ENST00000512339.5:c.427+24489_427+24490insCGAG	ENSP00000423800.1:n.427+24489_427+24490insCGAG
ENST00000515600.1:c.428-4821_428-4820insCGAG	ENSP00000422345.1:n.428-4821_428-4820insCGAG
NM_014883.3:c.428-4821_428-4820insCGAG	NP_055698.2:n.428-4821_428-4820insCGAG
XM_005262681.2:c.428-4821_428-4820insCGAG	XP_005262738.1:n.428-4821_428-4820insCGAG
XM_005262682.2:c.368-4821_368-4820insCGAG	XP_005262739.1:n.368-4821_368-4820insCGAG
XM_005262683.2:c.428-4821_428-4820insCGAG	XP_005262740.1:n.428-4821_428-4820insCGAG
XM_005262684.2:c.-23+24489_-23+24490insCGAG	XP_005262741.1:n.-23+24489_-23+24490insCGAG
XM_011531516.1:c.428-4821_428-4820insCGAG	XP_011529818.1:n.428-4821_428-4820insCGAG
XM_011531517.1:c.428-4821_428-4820insCGAG	XP_011529819.1:n.428-4821_428-4820insCGAG
XM_011531518.1:c.-131-4821_-131-4820insCGAG	XP_011529820.1:n.-131-4821_-131-4820insCGAG
XM_011531519.1:c.-131-4821_-131-4820insCGAG	XP_011529821.1:n.-131-4821_-131-4820insCGAG
XM_011531520.1:c.-23+22919_-23+22920insCGAG	XP_011529822.1:n.-23+22919_-23+22920insCGAG
XM_005262681.3:c.428-4821_428-4820insCGAG	XP_005262738.1:n.428-4821_428-4820insCGAG
XM_005262683.3:c.428-4821_428-4820insCGAG	XP_005262740.1:n.428-4821_428-4820insCGAG
XM_005262684.4:c.-23+24489_-23+24490insCGAG	XP_005262741.1:n.-23+24489_-23+24490insCGAG
XM_011531517.2:c.428-4821_428-4820insCGAG	XP_011529819.1:n.428-4821_428-4820insCGAG
XM_011531519.3:c.-131-4821_-131-4820insCGAG	XP_011529821.1:n.-131-4821_-131-4820insCGAG
XM_017007624.2:c.428-4821_428-4820insCGAG	XP_016863113.1:n.428-4821_428-4820insCGAG
XM_017007625.1:c.263-4821_263-4820insCGAG	XP_016863114.1:n.263-4821_263-4820insCGAG
XM_017007626.1:c.74+22919_74+22920insCGAG	XP_016863115.1:n.74+22919_74+22920insCGAG
XM_017007627.1:c.-23+24489_-23+24490insCGAG	XP_016863116.1:n.-23+24489_-23+24490insCGAG
XM_017007628.2:c.-23+24489_-23+24490insCGAG	XP_016863117.1:n.-23+24489_-23+24490insCGAG
XM_017007629.2:c.-2163-4821_-2163-4820insCGAG	XP_016863118.1:n.-2163-4821_-2163-4820insCGAG
XM_017007630.2:c.-58+24489_-58+24490insCGAG	XP_016863119.1:n.-58+24489_-58+24490insCGAG
XM_017007631.2:c.-2163-4821_-2163-4820insCGAG	XP_016863120.1:n.-2163-4821_-2163-4820insCGAG
XM_017007632.2:c.-58+24489_-58+24490insCGAG	XP_016863121.1:n.-58+24489_-58+24490insCGAG
XM_017007633.2:c.-2226-4821_-2226-4820insCGAG	XP_016863122.1:n.-2226-4821_-2226-4820insCGAG
XM_024453870.1:c.428-4821_428-4820insCGAG	XP_024309638.1:n.428-4821_428-4820insCGAG
NM_014883.4:c.428-4821_428-4820insCGAG MANE Select	NP_055698.2:n.428-4821_428-4820insCGAG