Canonical Allele Identifier: CA1327174131

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011534_215011535delinsGA , CM000664.2:g.215011534_215011535delinsGA	GRCh38
NC_000002.11:g.215876258_215876259delinsGA , CM000664.1:g.215876258_215876259delinsGA	GRCh37
NC_000002.10:g.215584503_215584504delinsGA	NCBI36
NG_007074.1:g.131893_131894delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2236_2237delinsTC MANE Select	ENSP00000272895.7:p.Ser746=
ENST00000272895.11:c.2236_2237delinsTC	ENSP00000272895.7:p.Ser746=
ENST00000389661.4:c.1282_1283delinsTC	ENSP00000374312.4:p.Ser428=
NM_015657.3:c.1282_1283delinsTC	NP_056472.2:p.Ser428=
NM_173076.2:c.2236_2237delinsTC	NP_775099.2:p.Ser746=
NR_103740.1:n.2480_2481delinsTC
XM_011510951.1:c.2236_2237delinsTC	XP_011509253.1:p.Ser746=
XM_011510952.1:c.2236_2237delinsTC	XP_011509254.1:p.Ser746=
XM_011510951.2:c.2236_2237delinsTC	XP_011509253.1:p.Ser746=
NM_173076.3:c.2236_2237delinsTC MANE Select	NP_775099.2:p.Ser746=
NR_103740.2:n.2678_2679delinsTC
NM_015657.4:c.1282_1283delinsTC	NP_056472.2:p.Ser428=