Canonical Allele Identifier: CA2662976206

Gene: ABCA12 SNHG31

Linked Data

• gnomAD v4: 2-214953896-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214953903del , CM000664.2:g.214953903del	GRCh38
NC_000002.11:g.215818627del , CM000664.1:g.215818627del	GRCh37
NC_000002.10:g.215526872del	NCBI36
NG_007074.1:g.189531del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.6604del (ABCA12) MANE Select	ENSP00000272895.7:p.Ser2202ProfsTer5
ENST00000272895.11:c.6604del (ABCA12)	ENSP00000272895.7:p.Ser2202ProfsTer5
ENST00000389661.4:c.5650del (ABCA12)	ENSP00000374312.4:p.Ser1884ProfsTer5
NM_015657.3:c.5650del (ABCA12)	NP_056472.2:p.Ser1884ProfsTer5
NM_173076.2:c.6604del (ABCA12)	NP_775099.2:p.Ser2202ProfsTer5
NR_103740.1:n.6904del (ABCA12)
NR_110292.1:n.444+5956del (SNHG31)
XM_011510951.1:c.6613del (ABCA12)	XP_011509253.1:p.Ser2205ProfsTer5
XM_011510951.2:c.6613del (ABCA12)	XP_011509253.1:p.Ser2205ProfsTer5
NM_173076.3:c.6604del (ABCA12) MANE Select	NP_775099.2:p.Ser2202ProfsTer5
NR_103740.2:n.7102del (ABCA12)
NM_015657.4:c.5650del (ABCA12)	NP_056472.2:p.Ser1884ProfsTer5