Canonical Allele Identifier: CA2662977966

Gene: ABCA12

Linked Data

• gnomAD v4: 2-214978537-T-TAGAAAGAGAAGCCAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214978537_214978538insAGAAAGAGAAGCCAGA , CM000664.2:g.214978537_214978538insAGAAAGAGAAGCCAGA	GRCh38
NC_000002.11:g.215843261_215843262insAGAAAGAGAAGCCAGA , CM000664.1:g.215843261_215843262insAGAAAGAGAAGCCAGA	GRCh37
NC_000002.10:g.215551506_215551507insAGAAAGAGAAGCCAGA	NCBI36
NG_007074.1:g.164890_164891insTCTGGCTTCTCTTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4978-72_4978-71insTCTGGCTTCTCTTTCT MANE Select	ENSP00000272895.7:n.4978-72_4978-71insTCTGGCTTCTCTTTCT
ENST00000272895.11:c.4978-72_4978-71insTCTGGCTTCTCTTTCT	ENSP00000272895.7:n.4978-72_4978-71insTCTGGCTTCTCTTTCT
ENST00000389661.4:c.4024-72_4024-71insTCTGGCTTCTCTTTCT	ENSP00000374312.4:n.4024-72_4024-71insTCTGGCTTCTCTTTCT
NM_015657.3:c.4024-72_4024-71insTCTGGCTTCTCTTTCT	NP_056472.2:n.4024-72_4024-71insTCTGGCTTCTCTTTCT
NM_173076.2:c.4978-72_4978-71insTCTGGCTTCTCTTTCT	NP_775099.2:n.4978-72_4978-71insTCTGGCTTCTCTTTCT
NR_103740.1:n.5278-72_5278-71insTCTGGCTTCTCTTTCT
XM_011510951.1:c.4987-72_4987-71insTCTGGCTTCTCTTTCT	XP_011509253.1:n.4987-72_4987-71insTCTGGCTTCTCTTTCT
XM_011510952.1:c.4987-72_4987-71insTCTGGCTTCTCTTTCT	XP_011509254.1:n.4987-72_4987-71insTCTGGCTTCTCTTTCT
XM_011510951.2:c.4987-72_4987-71insTCTGGCTTCTCTTTCT	XP_011509253.1:n.4987-72_4987-71insTCTGGCTTCTCTTTCT
NM_173076.3:c.4978-72_4978-71insTCTGGCTTCTCTTTCT MANE Select	NP_775099.2:n.4978-72_4978-71insTCTGGCTTCTCTTTCT
NR_103740.2:n.5476-72_5476-71insTCTGGCTTCTCTTTCT
NM_015657.4:c.4024-72_4024-71insTCTGGCTTCTCTTTCT	NP_056472.2:n.4024-72_4024-71insTCTGGCTTCTCTTTCT