Canonical Allele Identifier: CA2662980468

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215011689-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011689_215011690insT , CM000664.2:g.215011689_215011690insT	GRCh38
NC_000002.11:g.215876413_215876414insT , CM000664.1:g.215876413_215876414insT	GRCh37
NC_000002.10:g.215584658_215584659insT	NCBI36
NG_007074.1:g.131738_131739insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2122-41_2122-40insA MANE Select	ENSP00000272895.7:n.2122-41_2122-40insA
ENST00000272895.11:c.2122-41_2122-40insA	ENSP00000272895.7:n.2122-41_2122-40insA
ENST00000389661.4:c.1168-41_1168-40insA	ENSP00000374312.4:n.1168-41_1168-40insA
NM_015657.3:c.1168-41_1168-40insA	NP_056472.2:n.1168-41_1168-40insA
NM_173076.2:c.2122-41_2122-40insA	NP_775099.2:n.2122-41_2122-40insA
NR_103740.1:n.2366-41_2366-40insA
XM_011510951.1:c.2122-41_2122-40insA	XP_011509253.1:n.2122-41_2122-40insA
XM_011510952.1:c.2122-41_2122-40insA	XP_011509254.1:n.2122-41_2122-40insA
XM_011510951.2:c.2122-41_2122-40insA	XP_011509253.1:n.2122-41_2122-40insA
NM_173076.3:c.2122-41_2122-40insA MANE Select	NP_775099.2:n.2122-41_2122-40insA
NR_103740.2:n.2564-41_2564-40insA
NM_015657.4:c.1168-41_1168-40insA	NP_056472.2:n.1168-41_1168-40insA