Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214953767_214953793delinsGAAAAGCTTAGACTATTGACTTCTTTC , CM000664.2:g.214953767_214953793delinsGAAAAGCTTAGACTATTGACTTCTTTC	GRCh38
NC_000002.11:g.215818491_215818517delinsGAAAAGCTTAGACTATTGACTTCTTTC , CM000664.1:g.215818491_215818517delinsGAAAAGCTTAGACTATTGACTTCTTTC	GRCh37
NC_000002.10:g.215526736_215526762delinsGAAAAGCTTAGACTATTGACTTCTTTC	NCBI36
NG_007074.1:g.189635_189661delinsGAAAGAAGTCAATAGTCTAAGCTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.6647+61_6647+87delinsGAAAGAAGTCAATAGTCTAAGCTTTTC (ABCA12) MANE Select	ENSP00000272895.7:n.6647+61_6647+87delinsGAAAGAAGTCAATAGTCTAA...
ENST00000272895.11:c.6647+61_6647+87delinsGAAAGAAGTCAATAGTCTAAGCTTTTC (ABCA12)	ENSP00000272895.7:n.6647+61_6647+87delinsGAAAGAAGTCAATAGTCTAA...
ENST00000389661.4:c.5693+61_5693+87delinsGAAAGAAGTCAATAGTCTAAGCTTTTC (ABCA12)	ENSP00000374312.4:n.5693+61_5693+87delinsGAAAGAAGTCAATAGTCTAA...
NM_015657.3:c.5693+61_5693+87delinsGAAAGAAGTCAATAGTCTAAGCTTTTC (ABCA12)	NP_056472.2:n.5693+61_5693+87delinsGAAAGAAGTCAATAGTCTAAGCTTTT...
NM_173076.2:c.6647+61_6647+87delinsGAAAGAAGTCAATAGTCTAAGCTTTTC (ABCA12)	NP_775099.2:n.6647+61_6647+87delinsGAAAGAAGTCAATAGTCTAAGCTTTT...
NR_103740.1:n.6947+61_6947+87delinsGAAAGAAGTCAATAGTCTAAGCTTTTC (ABCA12)
NR_110292.1:n.444+5820_444+5846delinsGAAAAGCTTAGACTATTGACTTCTTTC (SNHG31)
XM_011510951.1:c.6656+61_6656+87delinsGAAAGAAGTCAATAGTCTAAGCTTTTC (ABCA12)	XP_011509253.1:n.6656+61_6656+87delinsGAAAGAAGTCAATAGTCTAAGCT...
XM_011510951.2:c.6656+61_6656+87delinsGAAAGAAGTCAATAGTCTAAGCTTTTC (ABCA12)	XP_011509253.1:n.6656+61_6656+87delinsGAAAGAAGTCAATAGTCTAAGCT...
NM_173076.3:c.6647+61_6647+87delinsGAAAGAAGTCAATAGTCTAAGCTTTTC (ABCA12) MANE Select	NP_775099.2:n.6647+61_6647+87delinsGAAAGAAGTCAATAGTCTAAGCTTTT...
NR_103740.2:n.7145+61_7145+87delinsGAAAGAAGTCAATAGTCTAAGCTTTTC (ABCA12)
NM_015657.4:c.5693+61_5693+87delinsGAAAGAAGTCAATAGTCTAAGCTTTTC (ABCA12)	NP_056472.2:n.5693+61_5693+87delinsGAAAGAAGTCAATAGTCTAAGCTTTT...