Canonical Allele Identifier: CA1327160935
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214980413_214980415delinsACT , CM000664.2:g.214980413_214980415delinsACT GRCh38
NC_000002.11:g.215845137_215845139delinsACT , CM000664.1:g.215845137_215845139delinsACT GRCh37
NC_000002.10:g.215553382_215553384delinsACT NCBI36
NG_007074.1:g.163013_163015delinsAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.4740+68_4740+70delinsAGT MANE Select ENSP00000272895.7:n.4740+68_4740+70delinsAGT
ENST00000272895.11:c.4740+68_4740+70delinsAGT ENSP00000272895.7:n.4740+68_4740+70delinsAGT
ENST00000389661.4:c.3786+68_3786+70delinsAGT ENSP00000374312.4:n.3786+68_3786+70delinsAGT
NM_015657.3:c.3786+68_3786+70delinsAGT NP_056472.2:n.3786+68_3786+70delinsAGT
NM_173076.2:c.4740+68_4740+70delinsAGT NP_775099.2:n.4740+68_4740+70delinsAGT
NR_103740.1:n.5040+68_5040+70delinsAGT
XM_011510951.1:c.4749+68_4749+70delinsAGT XP_011509253.1:n.4749+68_4749+70delinsAGT
XM_011510952.1:c.4749+68_4749+70delinsAGT XP_011509254.1:n.4749+68_4749+70delinsAGT
XM_011510951.2:c.4749+68_4749+70delinsAGT XP_011509253.1:n.4749+68_4749+70delinsAGT
NM_173076.3:c.4740+68_4740+70delinsAGT MANE Select NP_775099.2:n.4740+68_4740+70delinsAGT
NR_103740.2:n.5238+68_5238+70delinsAGT
NM_015657.4:c.3786+68_3786+70delinsAGT NP_056472.2:n.3786+68_3786+70delinsAGT