Canonical Allele Identifier: CA818250088

Gene: FABP7

Linked Data

• dbSNP Id: rs1309457429
• gnomAD v3: 6-122780308-A-AG
• gnomAD v4: 6-122780308-A-AG
• MyVariant Identifiers: chr6:g.123101453_123101454insG (hg19) ; chr6:g.122780308_122780309insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.122780310dup , CM000668.2:g.122780310dup	GRCh38
NC_000006.11:g.123101455dup , CM000668.1:g.123101455dup	GRCh37
NC_000006.10:g.123143154dup	NCBI36
NG_050619.1:g.36110dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000368444.8:c.93dup MANE Select	ENSP00000357429.3:p.Gln32AlafsTer?
ENST00000356535.4:c.93dup	ENSP00000348931.4:p.Gln32AlafsTer?
ENST00000368444.7:c.93dup	ENSP00000357429.3:p.Gln32AlafsTer?
NM_001446.3:c.93dup	NP_001437.1:p.Gln32AlafsTer?
XM_005266858.2:c.93dup	XP_005266915.1:p.Gln32AlafsTer?
NM_001319039.1:c.93dup	NP_001305968.1:p.Gln32AlafsTer?
NM_001319041.1:c.93dup	NP_001305970.1:p.Gln32AlafsTer?
NM_001319042.1:c.81dup	NP_001305971.1:p.Gln28AlafsTer?
NM_001446.4:c.93dup	NP_001437.1:p.Gln32AlafsTer?
NM_001446.5:c.93dup MANE Select	NP_001437.1:p.Gln32AlafsTer?
NM_001319041.2:c.93dup	NP_001305970.1:p.Gln32AlafsTer?
NM_001319039.2:c.93dup	NP_001305968.1:p.Gln32AlafsTer?
NM_001319042.2:c.81dup	NP_001305971.1:p.Gln28AlafsTer?