Canonical Allele Identifier: CA1327160924

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980358_214980359delinsGA , CM000664.2:g.214980358_214980359delinsGA	GRCh38
NC_000002.11:g.215845082_215845083delinsGA , CM000664.1:g.215845082_215845083delinsGA	GRCh37
NC_000002.10:g.215553327_215553328delinsGA	NCBI36
NG_007074.1:g.163069_163070delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4740+124_4740+125delinsTC MANE Select	ENSP00000272895.7:n.4740+124_4740+125delinsTC
ENST00000272895.11:c.4740+124_4740+125delinsTC	ENSP00000272895.7:n.4740+124_4740+125delinsTC
ENST00000389661.4:c.3786+124_3786+125delinsTC	ENSP00000374312.4:n.3786+124_3786+125delinsTC
NM_015657.3:c.3786+124_3786+125delinsTC	NP_056472.2:n.3786+124_3786+125delinsTC
NM_173076.2:c.4740+124_4740+125delinsTC	NP_775099.2:n.4740+124_4740+125delinsTC
NR_103740.1:n.5040+124_5040+125delinsTC
XM_011510951.1:c.4749+124_4749+125delinsTC	XP_011509253.1:n.4749+124_4749+125delinsTC
XM_011510952.1:c.4749+124_4749+125delinsTC	XP_011509254.1:n.4749+124_4749+125delinsTC
XM_011510951.2:c.4749+124_4749+125delinsTC	XP_011509253.1:n.4749+124_4749+125delinsTC
NM_173076.3:c.4740+124_4740+125delinsTC MANE Select	NP_775099.2:n.4740+124_4740+125delinsTC
NR_103740.2:n.5238+124_5238+125delinsTC
NM_015657.4:c.3786+124_3786+125delinsTC	NP_056472.2:n.3786+124_3786+125delinsTC