Canonical Allele Identifier: CA2631462322

Gene: PAM16 CORO7-PAM16

Linked Data

• gnomAD v4: 16-4340987-T-TTCTGGACCTCCTCAGGGCTCAGCTTGGACAC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4340987_4340988insTCTGGACCTCCTCAGGGCTCAGCTTGGACAC , CM000678.2:g.4340987_4340988insTCTGGACCTCCTCAGGGCTCAGCTTGGACAC	GRCh38
NC_000016.9:g.4390988_4390989insTCTGGACCTCCTCAGGGCTCAGCTTGGACAC , CM000678.1:g.4390988_4390989insTCTGGACCTCCTCAGGGCTCAGCTTGGACAC	GRCh37
NC_000016.8:g.4330989_4330990insTCTGGACCTCCTCAGGGCTCAGCTTGGACAC	NCBI36
NG_016391.1:g.13764_13765insTCTGGACCTCCTCAGGGCTCAGCTTGGACAC
NG_016391.2:g.31227_31228insTCTGGACCTCCTCAGGGCTCAGCTTGGACAC
NG_054893.1:g.15385_15386insGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318059.8:c.226-3_226-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGA (PAM16) MANE Select	ENSP00000315693.3:n.226-3_226-2insGTGTCCAAGCTGAGCCCTGAGGAGGTC...
ENST00000318059.7:c.226-3_226-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGA (PAM16)	ENSP00000315693.3:n.226-3_226-2insGTGTCCAAGCTGAGCCCTGAGGAGGTC...
ENST00000571178.1:c.200-3_200-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGA (PAM16)
ENST00000571941.5:c.286-3_286-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGA (PAM16)	ENSP00000460708.1:n.286-3_286-2insGTGTCCAAGCTGAGCCCTGAGGAGGTC...
ENST00000571986.5:c.*119-3_*119-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGA (PAM16)	ENSP00000459802.1:n.*119-3_*119-2insGTGTCCAAGCTGAGCCCTGAGGAGG...
ENST00000572274.1:n.628-3_628-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGA (CORO7-PAM16)
ENST00000572467.5:c.2995-3_2995-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGA (CORO7-PAM16)	ENSP00000460885.1:n.2995-3_2995-2insGTGTCCAAGCTGAGCCCTGAGGAGG...
ENST00000573236.5:n.482-3_482-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGA (PAM16)
ENST00000573450.5:n.359-3_359-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGA (PAM16)
ENST00000573553.5:c.286-3_286-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGA (PAM16)	ENSP00000459955.1:n.286-3_286-2insGTGTCCAAGCTGAGCCCTGAGGAGGTC...
ENST00000573614.5:n.430-3_430-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGA (PAM16)
ENST00000575334.5:c.*1521-3_*1521-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGA (CORO7-PAM16)	ENSP00000458607.1:n.*1521-3_*1521-2insGTGTCCAAGCTGAGCCCTGAGGA...
ENST00000575636.5:c.*119-3_*119-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGA (PAM16)	ENSP00000458914.1:n.*119-3_*119-2insGTGTCCAAGCTGAGCCCTGAGGAGG...
ENST00000575848.5:c.262-3_262-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGA (PAM16)	ENSP00000458412.1:n.262-3_262-2insGTGTCCAAGCTGAGCCCTGAGGAGGTC...
ENST00000576217.1:c.226-3_226-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGA (PAM16)	ENSP00000461047.1:n.226-3_226-2insGTGTCCAAGCTGAGCCCTGAGGAGGTC...
ENST00000577031.5:c.226-3_226-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGA (PAM16)	ENSP00000459113.1:n.226-3_226-2insGTGTCCAAGCTGAGCCCTGAGGAGGTC...
NM_001201479.1:c.2995-3_2995-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGA (CORO7-PAM16)	NP_001188408.1:n.2995-3_2995-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCC...
NM_016069.9:c.226-3_226-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGA (PAM16)	NP_057153.8:n.226-3_226-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGA
NM_016069.10:c.226-3_226-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGA (PAM16)	NP_057153.8:n.226-3_226-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGA
NM_016069.11:c.226-3_226-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGA (PAM16) MANE Select	NP_057153.8:n.226-3_226-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGA
NM_001201479.2:c.2995-3_2995-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCCAGA (CORO7-PAM16)	NP_001188408.1:n.2995-3_2995-2insGTGTCCAAGCTGAGCCCTGAGGAGGTCC...