Canonical Allele Identifier: CA431388413

Gene: ABCA12

Linked Data

• MyVariant Identifiers: chr2:g.215855734_215855735insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214991010_214991011insA , CM000664.2:g.214991010_214991011insA	GRCh38
NC_000002.11:g.215855734_215855735insA , CM000664.1:g.215855734_215855735insA	GRCh37
NC_000002.10:g.215563979_215563980insA	NCBI36
NG_007074.1:g.152417_152418insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.3315_3316insT MANE Select	ENSP00000272895.7:p.Asn1106Ter
ENST00000272895.11:c.3315_3316insT	ENSP00000272895.7:p.Asn1106Ter
ENST00000389661.4:c.2361_2362insT	ENSP00000374312.4:p.Asn788Ter
NM_015657.3:c.2361_2362insT	NP_056472.2:p.Asn788Ter
NM_173076.2:c.3315_3316insT	NP_775099.2:p.Asn1106Ter
NR_103740.1:n.3615_3616insT
XM_011510951.1:c.3315_3316insT	XP_011509253.1:p.Asn1106Ter
XM_011510952.1:c.3315_3316insT	XP_011509254.1:p.Asn1106Ter
XM_011510951.2:c.3315_3316insT	XP_011509253.1:p.Asn1106Ter
NM_173076.3:c.3315_3316insT MANE Select	NP_775099.2:p.Asn1106Ter
NR_103740.2:n.3813_3814insT
NM_015657.4:c.2361_2362insT	NP_056472.2:p.Asn788Ter