Canonical Allele Identifier: CA2662975046

Gene: ABCA12 SNHG31

Linked Data

• gnomAD v4: 2-214947404-AAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214947408_214947410del , CM000664.2:g.214947408_214947410del	GRCh38
NC_000002.11:g.215812132_215812134del , CM000664.1:g.215812132_215812134del	GRCh37
NC_000002.10:g.215520377_215520379del	NCBI36
NG_007074.1:g.196021_196023del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.7239+15_7239+17del (ABCA12) MANE Select	ENSP00000272895.7:n.7239+15_7239+17del
ENST00000272895.11:c.7239+15_7239+17del (ABCA12)	ENSP00000272895.7:n.7239+15_7239+17del
ENST00000389661.4:c.6285+15_6285+17del (ABCA12)	ENSP00000374312.4:n.6285+15_6285+17del
NM_015657.3:c.6285+15_6285+17del (ABCA12)	NP_056472.2:n.6285+15_6285+17del
NM_173076.2:c.7239+15_7239+17del (ABCA12)	NP_775099.2:n.7239+15_7239+17del
NR_103740.1:n.7539+15_7539+17del (ABCA12)
NR_110292.1:n.322-417_322-415del (SNHG31)
XM_011510951.1:c.7248+15_7248+17del (ABCA12)	XP_011509253.1:n.7248+15_7248+17del
XM_011510951.2:c.7248+15_7248+17del (ABCA12)	XP_011509253.1:n.7248+15_7248+17del
NM_173076.3:c.7239+15_7239+17del (ABCA12) MANE Select	NP_775099.2:n.7239+15_7239+17del
NR_103740.2:n.7737+15_7737+17del (ABCA12)
NM_015657.4:c.6285+15_6285+17del (ABCA12)	NP_056472.2:n.6285+15_6285+17del